Materiały źródłowe

• #1 Maple syrup urine disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/

  Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death. […] The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.

• #2 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Maple syrup urine disease (MSUD) is an inherited metabolic disorder named for the characteristic maple syrup smell of the affected individuals’s urine. […] Classic MSUD is typically observed in the first week of life. Within 12 to 24 hours of birth, the infant’s urine will take on a „maple syrup” smell. Individuals who are unfamiliar with maple syrup describe the odor as similar to fenugreek. Within several days, the infant will show poor feeding; vomiting; and irritability. This is followed by symptoms including lack of energy; weight loss; seizures; a tense, arched posture; muscle tone that alternates between stiff and limp; and swelling of the brain. If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days. If untreated, classic MSUD can cause brain damage, and many untreated infants will die within the first few months.

• #3 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Symptoms of classic MSUD appear in newborns within 48 hours of birth. In older children, signs of intermediate, intermittent, and thiamine-responsive MSUD usually develop before age 7. Symptoms can progress from mild to potentially life-threatening without treatment. Getting your child to an emergency department (ED) immediately at the first sign of MSUD is essential. […] Signs that your child has MSUD include: A sweet, syrupy smell in their pee, sweat or earwax. Lethargy (they may move slowly or appear tired or weak). Irritability or fussiness. Not eating. […] Without treatment, symptoms can progress to a metabolic crisis. During a metabolic crisis, the processes that allow your body to break down food malfunction. The amino acids and toxic byproducts they produce build up in your body.

• #4 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #5 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #6 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #7 Maple Syrup Urine Disease: What You Need to Know

  https://www.webmd.com/a-to-z-guides/what-is-maple-syrup-urine-disease

  The most distinct and easily recognizable symptom of MSUD is the smell. Urine, sweat, and even the earwax of people with MSUD will often have a sweet smell similar to maple syrup or burnt sugar. […] Babies with untreated classic MSUD might be more irritable, have longer or irregular sleep patterns, and have difficulty eating and breathing. They might also have muscle spasms, fall into a coma, or stop breathing entirely. As they get older, they are at risk for physical and mental disabilities or developmental delays. […] Intermediate, intermittent, and thiamine-responsive MSUD symptoms can happen at any age. Sometimes, MSUD symptoms can show up or become worse if you are sick or under stress. Symptoms in older children or adults include: Stomach pain, Vomiting, Anorexia and weight loss, Muscle weakness or loss of control, Involuntary movements, Slurred speech, Changes in consciousness or trouble remaining alert.

• #8 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #9 Maple Syrup Urine Disease | UPMC Children’s Hospital-Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/maple-syrup-urine-disease

  Babies with MSUD can start to have problems a few days after theyre born. In just a few days, amino acids and their toxic byproducts build up in the blood and urine. […] This causes symptoms such as: Pee or earwax that smells like maple syrup. Lethargy and ill temper. Feeding problems and poor appetite. Seizures or abnormal movements. Vomiting. […] The intermediate form of MSUD is less severe. Symptoms may not start until a baby is a few months old. […] A baby with the most severe form of MSUD may not survive more than a few weeks without treatment. […] With intermittent MSUD, a child may only have symptoms some of the time. They may flare up when the child is sick or under stress.

• #10 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Symptoms of classic MSUD appear in newborns within 48 hours of birth. In older children, signs of intermediate, intermittent, and thiamine-responsive MSUD usually develop before age 7. Symptoms can progress from mild to potentially life-threatening without treatment. Getting your child to an emergency department (ED) immediately at the first sign of MSUD is essential. […] Signs that your child has MSUD include: A sweet, syrupy smell in their pee, sweat or earwax. Lethargy (they may move slowly or appear tired or weak). Irritability or fussiness. Not eating. […] Without treatment, symptoms can progress to a metabolic crisis. During a metabolic crisis, the processes that allow your body to break down food malfunction. The amino acids and toxic byproducts they produce build up in your body.

• #11 Maple syrup urine disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000373.htm

  Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup. […] Symptoms of this disorder include: Coma, Feeding difficulties, Lethargy, Seizures, Urine that smells like maple syrup, Vomiting. […] In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). […] Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into adulthood and can remain healthy.

• #12 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Maple syrup urine disease is a rare inherited disorder caused by the bodys inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby’s urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening as early as the first two weeks of life. […] In most cases, MSUD is diagnosed at birth as part of routine newborn screening tests, which are required in many states. […] The signs, symptoms, and severity of maple syrup urine disease varies greatly among affected patients and depends on the type of MSUD and amount of residual enzyme activity. […] Infants with this form of MSUD generally show vague symptoms within a few days of birth, such as poor feeding, increased irritability, and lethargy. Within a few days and as the disease quickly progresses, infants with MSUD will display abnormal or spastic movements, hypertonia, neurological symptoms, and a distinctive odor of maple syrup in their urine, sweat and/or earwax.

• #13 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #14 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #15 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Maple syrup urine disease (MSUD) is an inherited metabolic disorder named for the characteristic maple syrup smell of the affected individuals’s urine. […] Classic MSUD is typically observed in the first week of life. Within 12 to 24 hours of birth, the infant’s urine will take on a „maple syrup” smell. Individuals who are unfamiliar with maple syrup describe the odor as similar to fenugreek. Within several days, the infant will show poor feeding; vomiting; and irritability. This is followed by symptoms including lack of energy; weight loss; seizures; a tense, arched posture; muscle tone that alternates between stiff and limp; and swelling of the brain. If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days. If untreated, classic MSUD can cause brain damage, and many untreated infants will die within the first few months.

• #16 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #17 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #18 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #19 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain -ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, -ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. […] Individuals with the classic neonatal form have 2% of BCKAD enzymatic activity and present with maple syrup odor in cerumen shortly after birth and in urine during the first week of life. If untreated, the neonate may develop irritability, lethargy, poor feeding, apnea, opisthotonus, bicycling movements, followed by coma and early death due to brain edema. In older individuals, increased levels of leucine (leucinosis) causes epigastric pain, anorexia, vomiting, muscle fatigue, altered level of consciousness, psychiatric symptoms, movement disorders, and ataxia. […] During periods of catabolism of endogenous protein, such as fever, infections, exercise, trauma, or surgery, individuals with MSUD can develop neurological deterioration due to acute leucine intoxication.

• #20 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #21 Maple Syrup Urine Disease (MSUD) Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/946234-clinical

  Classic maple syrup urine disease (MSUD) is the most common type, with symptoms developing in neonates aged 3-7 days, depending on feeding regimen. Breastfeeding may delay onset of symptoms into the second week of life. […] Symptoms that may develop within the first week of life include fussiness, lethargy, decreased nursing/feeding, emesis, poor weight gain, increasing lethargy, hypotonia and/or hypertonia, a high-pitched cry, seizures, and the characteristic maple syrup smell of the urine. This burnt maple sugar smell is more noticeable in a diaper after the urine has dried. […] In classic maple syrup urine disease, little or no BCKD enzyme activity (usually 2% of normal) is present. Infants show symptoms within the first week of life. They generally have poor tolerance for the branched-chain amino acids (BCAAs), so dietary protein must be severely restricted. In the classic type, neurological signs (eg, muscular hypotonia and/or hypertonia, dystonia, seizures, encephalopathy) rapidly develop.

• #22 Orphanet: Maple syrup urine disease

  https://www.orpha.net/en/disease/detail/511

  A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. […] Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements („fencing” and ”bicycling”) and opisthotonus. Coma and central respiratory failure supervene 7 to 10 days after birth. […] Intermediate MSUD clinically resembles classic MSUD but it can have a later onset and less severe symptoms. […] Intermittent MSUD patients are asymptomatic at birth but may suffer episodes of acute decompensation or develop neurological symptoms and developmental delay during childhood. […] Thiamin-responsive MSUD is clinically similar to intermediate MSUD with thiamin therapy improving dietary leucine tolerance.

• #23 Maple Syrup Urine Disease – Amino Acid Metabolism Disorders – Biochemistry for Medicine

  https://www.picmonic.com/pathways/medicine/courses/standard/biochemistry-182/amino-acid-metabolism-disorders-36078/maple-syrup-urine-disease_136

  Maple syrup urine disease, also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder caused by a deficiency of the alpha ketoacid dehydrogenase complex. […] Infants with this metabolic disorder initially seem healthy at birth but if left untreated can suffer from seizures, CNS defects, and intellectual disability. […] Other nonspecific symptoms include poor feeding, vomiting, dehydration, lethargy and hypotonia. […] A seizure is defined as a transient episode of abnormal, excessive neuronal activity. Seizures can be a symptom of maple syrup urine disease. […] Infants with this metabolic disorder initially seem healthy at birth but, if left untreated, can suffer from CNS defects and intellectual disability.

• #24 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #25

  https://www.jscreen.org/hereditary-diseases/maple-syrup-urine-disease?srsltid=AfmBOoo-J7B7NwNEyzk_iKey5eBEscVu0G-6kE2loRxAvnYuPfMuvB7g

  Maple syrup urine disease can be classified into four general types: classic, intermediate, intermittent, and thiamine-responsive. […] Classic MSUD is characterized by little or no enzyme activity. Symptoms in people with classic MSUD will appear in the first week of life. Within 12 to 24 hours, or upon first consumption of protein, the infants urine will take on a maple syrup smell. […] Within several days, the infant will show poor feeding, vomiting, and irritability, followed by lack of energy, weight loss, seizures, a tense arched posture, muscle tone which alternates between stiff and limp, and swelling of the brain. If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months. […] Upon any lapse of treatment, classic MSUD can cause brain damage. People with the disease are particularly prone to crisis during illness, infection, fasting, or after surgery.

• #26 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #27 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  This type is a milder form of MSUD in comparison to classic MSUD. Intermediate MSUD has greater levels of residual enzyme activity than classic MSUD. The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic MSUD also appear in intermediate MSUD. Maple syrup odor to the urine and earwax is observed. Patients with intermediate MSUD may be presented with acidosis and developmental delay. […] Symptoms of lethargy and characterized odor of maple syrup will occur when the individual experiences stress, does not eat or develops an infection. The metabolic crisis leading to seizures, coma, and brain damage is still a possibility. […] Symptoms associated with thiamine-response MSUD are similar to intermediate MSUD. Newborns rarely present with symptoms. This is a distinctive type of MSUD because they respond very well to thiamine therapy. Symptoms may include acidosis and developmental delay.

• #28 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  People with intermediate MSUD will have similar symptoms to those with the classic form of the condition, including: lethargy, poor feeding, poor growth, ataxia, which refers to a group of conditions that affect a person’s balance, coordination, and speech, maple syrup odor to earwax, sweat, and urine. […] The symptoms will be less severe than those in the classic form. However, during a metabolic crisis, the symptoms and risks are the same. […] Intermittent MSUD symptoms might not appear until a child reaches 12 years old. […] However, symptoms can appear when a person is ill, fasting, or has consumed large amounts of protein. Symptoms are the same or similar to classic MSUD. […] Symptoms of this form of MSUD are similar to those with intermediate MSUD. […] Without treatment, some infants are at risk of brain damage, respiratory failure, life threatening coma, and developmental delay. […] Periodic episodes of crisis can cause other complications. This can include the development of learning disabilities and intellectual disabilities.

• #29 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Individuals with the disease are particularly prone to crisis during illness, infection, or fasting, or after surgery. Older individuals with MSUD often experience attention-deficit/hyperactivity disorder, depression, or anxiety disorders. […] Intermediate MSUD is similar to, but less severe than, the classic form. The age of onset varies, and individuals may not experience severe symptoms in the newborn period. Individuals with intermediate MSUD generally experience poor feeding and growth and often have developmental delay in infancy or early childhood. During times of crisis such as illness, infection, or fasting, or after surgery, the symptoms of intermediate MSUD are nearly identical to those of the classic type. […] This form of the disease is rare. Children with intermittent MSUD generally have normal feeding and growth with no developmental delays. Individuals typically only experience symptoms during illness, fasting, or periods of high protein consumption. As with the intermediate type, in times of crisis, risks and symptoms are similar to those of the classic form.

• #30 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  People with intermediate MSUD will have similar symptoms to those with the classic form of the condition, including: lethargy, poor feeding, poor growth, ataxia, which refers to a group of conditions that affect a person’s balance, coordination, and speech, maple syrup odor to earwax, sweat, and urine. […] The symptoms will be less severe than those in the classic form. However, during a metabolic crisis, the symptoms and risks are the same. […] Intermittent MSUD symptoms might not appear until a child reaches 12 years old. […] However, symptoms can appear when a person is ill, fasting, or has consumed large amounts of protein. Symptoms are the same or similar to classic MSUD. […] Symptoms of this form of MSUD are similar to those with intermediate MSUD. […] Without treatment, some infants are at risk of brain damage, respiratory failure, life threatening coma, and developmental delay. […] Periodic episodes of crisis can cause other complications. This can include the development of learning disabilities and intellectual disabilities.

• #31 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  This type is a milder form of MSUD in comparison to classic MSUD. Intermediate MSUD has greater levels of residual enzyme activity than classic MSUD. The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic MSUD also appear in intermediate MSUD. Maple syrup odor to the urine and earwax is observed. Patients with intermediate MSUD may be presented with acidosis and developmental delay. […] Symptoms of lethargy and characterized odor of maple syrup will occur when the individual experiences stress, does not eat or develops an infection. The metabolic crisis leading to seizures, coma, and brain damage is still a possibility. […] Symptoms associated with thiamine-response MSUD are similar to intermediate MSUD. Newborns rarely present with symptoms. This is a distinctive type of MSUD because they respond very well to thiamine therapy. Symptoms may include acidosis and developmental delay.

• #32 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #33 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #34 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #35 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #36 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #37 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #38 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Like its classic form, intermediate MSUD initially produces nonspecific symptoms including feeding problems, lethargy, and poor growth, which may worsen to include seizures, brain damage, coma, and life-threatening complications. […] The fourth type, thiamine-responsive MSUD, responds to treatment with vitamin B1 (thiamine), which plays a role in enzyme processing. Symptoms of thiamine-responsive MSUD are similar to intermediate MSUD and rarely occur in the first year of life. […] MSUD can cause irreversible metabolic damage and be life-limiting. For these reasons, its important to diagnose the disease as soon as possible and begin treatment. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #39 Maple Syrup Urine Disease (MSUD) | New York State Department of Health, Wadsworth Center

  https://www.wadsworth.org/public-health-programs/newborn-screening/newborn-screening-program/maple-syrup-urine-disease-msud

  The severity and age of onset of symptoms in people with MSUD is variable. The earwax and urine of babies with MSUD has an odor of maple syrup. The symptoms of the classic type begin in the first few days to weeks of life as poor feeding, vomiting and lethargy and progress to seizures, coma and death. […] The intermediate type of MSUD is milder, with symptoms (including developmental delay) beginning anytime after early infancy until childhood. There is also an intermittent type. Patients with this type have completely normal leucine levels unless they are ill. The thiamine response type has symptoms similar to the intermediate type, but thiamine supplementation reduces symptoms.

• #40 Maple Syrup Urine Disease (MSUD) | New York State Department of Health, Wadsworth Center

  https://www.wadsworth.org/public-health-programs/newborn-screening/newborn-screening-program/maple-syrup-urine-disease-msud

  The severity and age of onset of symptoms in people with MSUD is variable. The earwax and urine of babies with MSUD has an odor of maple syrup. The symptoms of the classic type begin in the first few days to weeks of life as poor feeding, vomiting and lethargy and progress to seizures, coma and death. […] The intermediate type of MSUD is milder, with symptoms (including developmental delay) beginning anytime after early infancy until childhood. There is also an intermittent type. Patients with this type have completely normal leucine levels unless they are ill. The thiamine response type has symptoms similar to the intermediate type, but thiamine supplementation reduces symptoms.

• #41 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  This type is a milder form of MSUD in comparison to classic MSUD. Intermediate MSUD has greater levels of residual enzyme activity than classic MSUD. The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic MSUD also appear in intermediate MSUD. Maple syrup odor to the urine and earwax is observed. Patients with intermediate MSUD may be presented with acidosis and developmental delay. […] Symptoms of lethargy and characterized odor of maple syrup will occur when the individual experiences stress, does not eat or develops an infection. The metabolic crisis leading to seizures, coma, and brain damage is still a possibility. […] Symptoms associated with thiamine-response MSUD are similar to intermediate MSUD. Newborns rarely present with symptoms. This is a distinctive type of MSUD because they respond very well to thiamine therapy. Symptoms may include acidosis and developmental delay.

• #42 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  People with intermediate MSUD will have similar symptoms to those with the classic form of the condition, including: lethargy, poor feeding, poor growth, ataxia, which refers to a group of conditions that affect a person’s balance, coordination, and speech, maple syrup odor to earwax, sweat, and urine. […] The symptoms will be less severe than those in the classic form. However, during a metabolic crisis, the symptoms and risks are the same. […] Intermittent MSUD symptoms might not appear until a child reaches 12 years old. […] However, symptoms can appear when a person is ill, fasting, or has consumed large amounts of protein. Symptoms are the same or similar to classic MSUD. […] Symptoms of this form of MSUD are similar to those with intermediate MSUD. […] Without treatment, some infants are at risk of brain damage, respiratory failure, life threatening coma, and developmental delay. […] Periodic episodes of crisis can cause other complications. This can include the development of learning disabilities and intellectual disabilities.

• #43 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Signs of a metabolic crisis include: Abnormal muscle movements (spasms causing your child to arch their head, neck and spine backward). Seizures or convulsions (uncontrollable shaking). Vomiting. Coma. […] Without treatment, a metabolic crisis can lead to death. […] Even diagnosed children and adults managing MSUD can experience trigger events like an infection, injury and stress that cause a metabolic crisis. Get help fast.

• #44 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #45 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Signs of a metabolic crisis include: Abnormal muscle movements (spasms causing your child to arch their head, neck and spine backward). Seizures or convulsions (uncontrollable shaking). Vomiting. Coma. […] Without treatment, a metabolic crisis can lead to death. […] Even diagnosed children and adults managing MSUD can experience trigger events like an infection, injury and stress that cause a metabolic crisis. Get help fast.

• #46

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Babies with MSUD may present with symptoms of feeding problems, sleepiness and abnormal movements even before the newborn screening result is reported. […] They can progress to have fits and slip into a coma, which can lead to severe brain damage and can be life-threatening. […] If MSUD is not treated promptly, it can lead to long-term health problems including brain damage, severe learning and physical difficulties, and behavioural problems. […] Symptoms of a metabolic crisis include: irritability, sleepiness and non-responsiveness, floppiness and falling over, poor feeding, breathing difficulties, seizures, coma. […] A metabolic crisis can lead to serious illness and long-term brain damage, and can be life-threatening.

• #47 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Signs of a metabolic crisis include: Abnormal muscle movements (spasms causing your child to arch their head, neck and spine backward). Seizures or convulsions (uncontrollable shaking). Vomiting. Coma. […] Without treatment, a metabolic crisis can lead to death. […] Even diagnosed children and adults managing MSUD can experience trigger events like an infection, injury and stress that cause a metabolic crisis. Get help fast.

• #48 Maple Syrup Urine Disease (MSUD): Types and Symptoms

  https://www.healthline.com/health/maple-syrup-urine-disease

  Some initial symptoms characteristic of classic MSUD are: lethargy, poor appetite, weight loss, weak sucking ability, irritability, a distinctive maple sugar odor in earwax, sweat, and urine, irregular sleep patterns, alternating episodes of hypertonia (muscle rigidity) and hypotonia (muscle limpness), high-pitched cry. […] Signs of intermediate and thiamine-response MSUD include: seizures, neurological deficiencies, developmental delays, feeding problems, poor growth, a distinctive maple sugar odor in earwax, sweat, and urine. […] When untreated, MSUD can cause significant physical and neurological problems. […] A metabolic crisis usually is indicated by: extreme fatigue or lethargy, loss of alertness, irritability, vomiting. […] When MSUD is undiagnosed, or metabolic crises are untreated, the following severe complications can occur: seizures, swelling of the brain, lack of blood flow to the brain, metabolic acidosis a situation in which the blood contains high levels of acidic substances, coma. […] Eventually, life-threatening complications can develop and lead to death, especially if they go untreated.

• #49 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #50 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #51 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #52 Maple Syrup Urine Disease: What You Need to Know

  https://www.webmd.com/a-to-z-guides/what-is-maple-syrup-urine-disease

  The most distinct and easily recognizable symptom of MSUD is the smell. Urine, sweat, and even the earwax of people with MSUD will often have a sweet smell similar to maple syrup or burnt sugar. […] Babies with untreated classic MSUD might be more irritable, have longer or irregular sleep patterns, and have difficulty eating and breathing. They might also have muscle spasms, fall into a coma, or stop breathing entirely. As they get older, they are at risk for physical and mental disabilities or developmental delays. […] Intermediate, intermittent, and thiamine-responsive MSUD symptoms can happen at any age. Sometimes, MSUD symptoms can show up or become worse if you are sick or under stress. Symptoms in older children or adults include: Stomach pain, Vomiting, Anorexia and weight loss, Muscle weakness or loss of control, Involuntary movements, Slurred speech, Changes in consciousness or trouble remaining alert.

• #53 Maple Syrup Urine Disease (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/msud.html

  Newborns with MSUD have pee or earwax that smells sweet, like maple syrup. They also may: […] A baby or child with MSUD also might have: […] Children with milder forms of MSUD may not be diagnosed until they are older and start to show symptoms. […] Some people with MSUD may have episodes of metabolic crisis. These are triggered by stress, such as: […] Call your doctor right away if your child is sick, has a fever, is not eating well, or is very sleepy, or if you notice balance problems, trouble walking, or changes in behavior.

• #54 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Individuals with the disease are particularly prone to crisis during illness, infection, or fasting, or after surgery. Older individuals with MSUD often experience attention-deficit/hyperactivity disorder, depression, or anxiety disorders. […] Intermediate MSUD is similar to, but less severe than, the classic form. The age of onset varies, and individuals may not experience severe symptoms in the newborn period. Individuals with intermediate MSUD generally experience poor feeding and growth and often have developmental delay in infancy or early childhood. During times of crisis such as illness, infection, or fasting, or after surgery, the symptoms of intermediate MSUD are nearly identical to those of the classic type. […] This form of the disease is rare. Children with intermittent MSUD generally have normal feeding and growth with no developmental delays. Individuals typically only experience symptoms during illness, fasting, or periods of high protein consumption. As with the intermediate type, in times of crisis, risks and symptoms are similar to those of the classic form.

• #55 Maple syrup urine disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000373.htm

  Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup. […] Symptoms of this disorder include: Coma, Feeding difficulties, Lethargy, Seizures, Urine that smells like maple syrup, Vomiting. […] In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). […] Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into adulthood and can remain healthy.

• #56 Maple syrup urine disease | Lima Memorial Health System

  https://www.limamemorial.org/health-library/HIE%20Multimedia-TextOnly/1/000373

  Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup. […] In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). […] Some types of MSUD are mild or come and go. Even in the mildest form, repeated periods of physical stress can cause intellectual disability and high levels of leucine to build up. […] Symptoms of this disorder include: Coma, Feeding difficulties, Lethargy, Seizures, Urine that smells like maple syrup, Vomiting. […] This disease can be life threatening if untreated. […] Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into adulthood and can remain healthy. […] These complications can occur: Neurological damage, Coma, Death, Intellectual disability.

• #57 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Individuals with the disease are particularly prone to crisis during illness, infection, or fasting, or after surgery. Older individuals with MSUD often experience attention-deficit/hyperactivity disorder, depression, or anxiety disorders. […] Intermediate MSUD is similar to, but less severe than, the classic form. The age of onset varies, and individuals may not experience severe symptoms in the newborn period. Individuals with intermediate MSUD generally experience poor feeding and growth and often have developmental delay in infancy or early childhood. During times of crisis such as illness, infection, or fasting, or after surgery, the symptoms of intermediate MSUD are nearly identical to those of the classic type. […] This form of the disease is rare. Children with intermittent MSUD generally have normal feeding and growth with no developmental delays. Individuals typically only experience symptoms during illness, fasting, or periods of high protein consumption. As with the intermediate type, in times of crisis, risks and symptoms are similar to those of the classic form.

• #58

  https://www.jscreen.org/hereditary-diseases/maple-syrup-urine-disease?srsltid=AfmBOoo-J7B7NwNEyzk_iKey5eBEscVu0G-6kE2loRxAvnYuPfMuvB7g

  Maple syrup urine disease can be classified into four general types: classic, intermediate, intermittent, and thiamine-responsive. […] Classic MSUD is characterized by little or no enzyme activity. Symptoms in people with classic MSUD will appear in the first week of life. Within 12 to 24 hours, or upon first consumption of protein, the infants urine will take on a maple syrup smell. […] Within several days, the infant will show poor feeding, vomiting, and irritability, followed by lack of energy, weight loss, seizures, a tense arched posture, muscle tone which alternates between stiff and limp, and swelling of the brain. If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months. […] Upon any lapse of treatment, classic MSUD can cause brain damage. People with the disease are particularly prone to crisis during illness, infection, fasting, or after surgery.

• #59 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #60 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  Signs of a metabolic crisis include: Abnormal muscle movements (spasms causing your child to arch their head, neck and spine backward). Seizures or convulsions (uncontrollable shaking). Vomiting. Coma. […] Without treatment, a metabolic crisis can lead to death. […] Even diagnosed children and adults managing MSUD can experience trigger events like an infection, injury and stress that cause a metabolic crisis. Get help fast.

• #61 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Initial symptoms may include seizures, encephalopathy, and ataxia. […] When physically stressed, the symptoms of affected patients can become much more severe. […] Cerebral edema from MSUD can begin during the first week of life. Initial signs are typical for MSUD and include poor feeding, vomiting, irritability, lethargy, and periods of apnea, which worsen as the encephalopathy progresses. […] Left untreated, this can rapidly progress, leading to seizures, coma, respiratory failure, and death. […] Malignant cerebral edema is the most common immediate cause of death from MSUD, which can be as high as 25%.

• #62 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Initial symptoms may include seizures, encephalopathy, and ataxia. […] When physically stressed, the symptoms of affected patients can become much more severe. […] Cerebral edema from MSUD can begin during the first week of life. Initial signs are typical for MSUD and include poor feeding, vomiting, irritability, lethargy, and periods of apnea, which worsen as the encephalopathy progresses. […] Left untreated, this can rapidly progress, leading to seizures, coma, respiratory failure, and death. […] Malignant cerebral edema is the most common immediate cause of death from MSUD, which can be as high as 25%.

• #63 Maple Syrup Urine Disease (MSUD): Types and Symptoms

  https://www.healthline.com/health/maple-syrup-urine-disease

  Some initial symptoms characteristic of classic MSUD are: lethargy, poor appetite, weight loss, weak sucking ability, irritability, a distinctive maple sugar odor in earwax, sweat, and urine, irregular sleep patterns, alternating episodes of hypertonia (muscle rigidity) and hypotonia (muscle limpness), high-pitched cry. […] Signs of intermediate and thiamine-response MSUD include: seizures, neurological deficiencies, developmental delays, feeding problems, poor growth, a distinctive maple sugar odor in earwax, sweat, and urine. […] When untreated, MSUD can cause significant physical and neurological problems. […] A metabolic crisis usually is indicated by: extreme fatigue or lethargy, loss of alertness, irritability, vomiting. […] When MSUD is undiagnosed, or metabolic crises are untreated, the following severe complications can occur: seizures, swelling of the brain, lack of blood flow to the brain, metabolic acidosis a situation in which the blood contains high levels of acidic substances, coma. […] Eventually, life-threatening complications can develop and lead to death, especially if they go untreated.

• #64 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #65 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #66 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #67 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. […] It is critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #68 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #69 Maple syrup urine disease | 1st Choice Pharmacy Health Advice

  https://1stchoicepharmacy.co.uk/nhs_conditions_maple-syrup-urine-disease

  Maple syrup urine disease (MSUD) is a rare but serious inherited condition. […] One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name. […] Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat, poor feeding or loss of appetite, weight loss. […] Babies with MSUD may also have episodes known as a „metabolic crisis”, sometimes early in their life. Symptoms of a metabolic crisis include: lack of energy, vomiting, irritability, breathing difficulties. […] It’s important to get medical help immediately if your baby develops symptoms of a metabolic crisis. […] Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. […] Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

• #70 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #71 Maple Syrup Urine Disease – Patient Worthy

  https://patientworthy.com/maple-syrup-urine-disease/

  Maple syrup urine disease (MSUD) is a subtype of organic acidemia, and is a disorder in which the body cannot break down certain parts of proteins. […] Classic type is the most common and severe form of the disease, and is characterized by barely any enzyme activity. It appears shortly after birth, while other forms of the disorder become apparent later in infancy and childhood. They are usually milder, but can still lead to health problems if left untreated. […] The following are symptoms associated with MSUD: Urine that smells sweet, like maple syrup, Poor feeding, Irritability, Vomiting, Lethargy, Abnormal movements, Developmental delay, Behavioral issues such as ADHD, impulsivity, depression, and/or anxiety, Loss of bone mass, Inflammation in the pancreas, Seizures, Coma. […] Individuals whose disorder has been treated and stabilized must still be very vigilant and reactive, as they are still at risk of recurring episodes of metabolic crises. These episodes occur because of an increased breakdown of protein resulting from various metabolic stresses, including fasting, major changes in dietary habits, trauma, infection, and mental stress. These episodes will typically exhibit the standard symptoms of MSUD listed above.

• #72 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Individuals with the disease are particularly prone to crisis during illness, infection, or fasting, or after surgery. Older individuals with MSUD often experience attention-deficit/hyperactivity disorder, depression, or anxiety disorders. […] Intermediate MSUD is similar to, but less severe than, the classic form. The age of onset varies, and individuals may not experience severe symptoms in the newborn period. Individuals with intermediate MSUD generally experience poor feeding and growth and often have developmental delay in infancy or early childhood. During times of crisis such as illness, infection, or fasting, or after surgery, the symptoms of intermediate MSUD are nearly identical to those of the classic type. […] This form of the disease is rare. Children with intermittent MSUD generally have normal feeding and growth with no developmental delays. Individuals typically only experience symptoms during illness, fasting, or periods of high protein consumption. As with the intermediate type, in times of crisis, risks and symptoms are similar to those of the classic form.

• #73 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #74 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #75 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #76 Maple syrup urine disease type II | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ii/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. Liver transplantation can reduce or eliminate the need for dietary management, but it cannot reverse any developmental delays or mood disorders. It is critical to recognize the disease as soon as symptoms appear, in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #77 Symptoms of Maple Syrup Urine Disease: Life Expectancy, Causes

  https://www.medicinenet.com/what_are_the_symptoms_of_maple_syrup_urine_disease/article.htm

  Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder that affects the way the body processes branched-chain amino acids (BCCAs), such as leucine, isoleucine, and valine. If left untreated, it can lead to severe neurological damage, coma, and death. […] The symptoms of MSUD usually develop within a few days after birth and can vary from mild to severe. […] Common symptoms of MSUD include sweet-smelling urine and sweat, poor feeding and vomiting, lethargy and poor muscle tone, breathing difficulties, seizures, behavioral changes, and developmental delays. […] Early diagnosis and treatment are crucial for infants with MSUD to prevent the development of severe symptoms and long-term complications. […] The onset of symptoms in individuals who develop MSUD later in life can vary widely. Some may experience mild symptoms, such as difficulty concentrating or mood changes, while others may experience more severe symptoms, such as seizures, confusion, and even coma. […] If left untreated or poorly managed, MSUD can cause severe brain damage, coma, and death. However, with early diagnosis and prompt treatment, many individuals with MSUD can live relatively normal lives.

• #78 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Maple syrup urine disease (MSUD) is a defect of amino acid metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. This complex is responsible for breaking down the 3 essential branched-chain amino acids (BCAA): isoleucine, leucine, and valine. […] It classically manifests in the neonatal period with failure to thrive, delayed developmental milestones, feeding difficulties, lethargy, irritability, and a maple syrup odor first noticeable in the cerumen and then the urine. […] If left untreated, the most severe, classic form of MSUD can quickly lead to irreversible neurological injury manifesting as brain damage, seizures, a coma, or central respiratory failure within just 7 to 10 days after birth. […] Classic MSUD is not only the most common subtype of the disorder but also the most severe and dangerous. Characteristic clinical features include: There is little to no BCKAD enzyme activity (0% to 2%).

• #79 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #80 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #81 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #82 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #83 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #84 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  In the classical form of maple syrup urine disease, infants appear well at birth. Symptoms begin after 3 to 5 days and progress rapidly to death within 2 to 4 weeks if branched-chain amino acid restriction is not implemented. Early manifestations include feeding difficulties, irregular respirations, progressive loss of the Moro reflex, and apnea. Severe hypoglycemia and mild hyperammonemia may occur, as may pancreatitis. These infants may develop convulsions, opisthotonos, pedaling movements of the legs, and generalized muscular rigidity with or without intermittent flaccidity. Death may occur following the development of cerebral edema. At autopsy, cortical atrophy is seen on CT or MRI scan. The myelin is usually hypodense, which is thought to be due to failure of myelinization. Localization of edema to the cerebellum and posterior capsule may be pathognomonic (14).

• #85 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #86 Orphanet: Maple syrup urine disease

  https://www.orpha.net/en/disease/detail/511

  A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. […] Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements („fencing” and ”bicycling”) and opisthotonus. Coma and central respiratory failure supervene 7 to 10 days after birth. […] Intermediate MSUD clinically resembles classic MSUD but it can have a later onset and less severe symptoms. […] Intermittent MSUD patients are asymptomatic at birth but may suffer episodes of acute decompensation or develop neurological symptoms and developmental delay during childhood. […] Thiamin-responsive MSUD is clinically similar to intermediate MSUD with thiamin therapy improving dietary leucine tolerance.

• #87 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #88 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #89 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #90 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #91 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Initial symptoms may include seizures, encephalopathy, and ataxia. […] When physically stressed, the symptoms of affected patients can become much more severe. […] Cerebral edema from MSUD can begin during the first week of life. Initial signs are typical for MSUD and include poor feeding, vomiting, irritability, lethargy, and periods of apnea, which worsen as the encephalopathy progresses. […] Left untreated, this can rapidly progress, leading to seizures, coma, respiratory failure, and death. […] Malignant cerebral edema is the most common immediate cause of death from MSUD, which can be as high as 25%.

• #92 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  Less severe variants of maple syrup urine disease have symptoms occurring later in childhood following high protein intake or when a catabolic state is produced by fever, surgery, or prolonged fasting. Patients may be averse to protein on diet history and present with developmental and growth delays. Clinical manifestations may occur in early or late childhood and are characterized by intermittent episodes of ataxia, ketoacidosis, and failure to thrive. Intellectual disability and psychomotor delays are sequelae if left undiagnosed and untreated. „Intermittent,” „intermediate,” and „thiamine-responsive” forms are clinical classifications that are now recognized to overlap with one another and probably reflect the large number of private mutations identified in the genes for branched-chain alpha-ketoacid dehydrogenase and their various effects on dysfunction of this multienzyme complex. The degree of impaired branched-chain alpha-ketoacid dehydrogenase and the amount of environmental stress on the patient determine the rapidity, age of onset, and intensity of symptoms.

• #93 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #94 Maple syrup urine disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/

  Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death. […] The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.

• #95 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #96 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Classic MSUD is the most common type of MSUD. It also has the earliest onset and is presented with the most severe symptoms. Symptoms can be seen from within 7–10 days of birth. The maple syrup odor to the earwax is apparent around 12 hours after birth. The sweet-smelling urine is presented around a week after birth when protein metabolism has accelerated. Some other signs that may be seen are poor feeding, vomiting, irritability, lethargy, apnea, seizures, acidosis, and encephalopathy. […] Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetosis, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.

• #97 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  If treatment is initiated within the first week of life, cerebral edema is reversible and the prognosis is good (29). Because respiratory arrest may occur in the neonatal period, care in a tertiary neonatal intensive care unit is recommended. The metabolic derangement and its reversibility in the brain can now be followed using diffusion-weighted imaging and magnetic resonance spectroscopy (41). […] Although approximately 80% of patients with maple syrup urine disease present with the classical form and very low residual enzymatic activity (2% or less), most other patients present with intermittent disease and have higher enzymatic activity (5% or more). These patients have a normal psychomotor development but have acute metabolic attacks during catabolic stresses in infancy or childhood (characterized by elevated BCAA, ketonuria, ataxia, and lethargy). Rare patients present with the intermediate form; they have developmental delays but decompensate after the neonatal period. Note that the ex vivo enzymatic activities can be quite different from in vivo measurements of 13C-leucine oxidation (78), illustrating their limited predictive values.

• #98 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  If treatment is initiated within the first week of life, cerebral edema is reversible and the prognosis is good (29). Because respiratory arrest may occur in the neonatal period, care in a tertiary neonatal intensive care unit is recommended. The metabolic derangement and its reversibility in the brain can now be followed using diffusion-weighted imaging and magnetic resonance spectroscopy (41). […] Although approximately 80% of patients with maple syrup urine disease present with the classical form and very low residual enzymatic activity (2% or less), most other patients present with intermittent disease and have higher enzymatic activity (5% or more). These patients have a normal psychomotor development but have acute metabolic attacks during catabolic stresses in infancy or childhood (characterized by elevated BCAA, ketonuria, ataxia, and lethargy). Rare patients present with the intermediate form; they have developmental delays but decompensate after the neonatal period. Note that the ex vivo enzymatic activities can be quite different from in vivo measurements of 13C-leucine oxidation (78), illustrating their limited predictive values.

• #99 Maple syrup urine disease type II | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ii/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. Liver transplantation can reduce or eliminate the need for dietary management, but it cannot reverse any developmental delays or mood disorders. It is critical to recognize the disease as soon as symptoms appear, in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #100 Maple Syrup Urine Disease (MSUD) Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/946234-clinical

  Classic maple syrup urine disease (MSUD) is the most common type, with symptoms developing in neonates aged 3-7 days, depending on feeding regimen. Breastfeeding may delay onset of symptoms into the second week of life. […] Symptoms that may develop within the first week of life include fussiness, lethargy, decreased nursing/feeding, emesis, poor weight gain, increasing lethargy, hypotonia and/or hypertonia, a high-pitched cry, seizures, and the characteristic maple syrup smell of the urine. This burnt maple sugar smell is more noticeable in a diaper after the urine has dried. […] In classic maple syrup urine disease, little or no BCKD enzyme activity (usually 2% of normal) is present. Infants show symptoms within the first week of life. They generally have poor tolerance for the branched-chain amino acids (BCAAs), so dietary protein must be severely restricted. In the classic type, neurological signs (eg, muscular hypotonia and/or hypertonia, dystonia, seizures, encephalopathy) rapidly develop.

• #101 RFTS – Home Page

  https://www.wvdhhr.org/nbms/diseases/Maple_Syrup_Urine_Disease.asp

  Maple syrup urine disease (MSUD) (OMIM database No. 248600),108 also known as branched-chain ketoaciduria, is caused by a deficiency in activity of the branched-chain {alpha}-keto acid dehydrogenase (BCKD) complex. […] Classic MSUD (residual enzyme activity 2%) is the most severe and most common form. Affected infants are normal at birth, with symptoms usually developing between 4 and 7 days of age; however, lower intake of protein, as in breastfeeding, can delay the onset of symptoms until the second week of life. Initial symptoms are lethargy and poor sucking with little interest in feeding. Weight loss follows with abnormal neurologic signs (alternating hypertonia and hypotonia; dystonic posturing of the arms) becoming more and more apparent. The characteristic odor of the urine, described as smelling like maple syrup, burnt sugar, or curry, is then noted. Finally, seizures and coma, leading to death (in untreated cases), occurs.109 Laboratory findings include increased concentrations of BCAAs, ketosis, acidosis, and occasionally hypoglycemia.114

• #102

  https://www.jscreen.org/hereditary-diseases/maple-syrup-urine-disease?srsltid=AfmBOoo-J7B7NwNEyzk_iKey5eBEscVu0G-6kE2loRxAvnYuPfMuvB7g

  Intermediate MSUD is similar to but less severe than the classic form. During periods of crisis, however, symptoms and risks are nearly identical. […] Symptoms of the disease may not appear until the first or second year of life. Symptoms often appear during illness, fasting, or periods of high protein consumption. […] In times of crisis, the risks and symptoms of thiamine-responsive MSUD are similar to the classic form. […] With early, careful, and lifelong treatment, people with MSUD type 1B can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability. […] Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These may create learning problems or mental disability and can be life-threatening. […] If untreated, MSUD can be fatal.

• #103 Maple Syrup Urine Disease (MSUD) Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/946234-clinical

  Ketosis and the characteristic urine odor of maple syrup are usually present when the first symptoms develop. […] Patients with intermediate maple syrup urine disease have a higher level of BCKD enzyme activity (approximately 3%-8% of normal), and they can usually tolerate a greater amount of leucine. Clinical signs in these patients include neurological impairment, developmental delay of varying degree, and seizures. […] Symptoms may not present until age 12-24 months, usually in response to catabolic stress as due to illness (eg, otitis media) or a surge in protein intake. During these episodes, the characteristic maple syrup odor becomes evident, and metabolic decompensation can occur. Ataxia, lethargy, seizures, and coma may ensue. […] Patients with maple syrup urine disease are at risk for metabolic decompensation during periods of increased catabolism. Dietary compliance is necessary to prevent developmental delay and neurological symptoms.

• #104 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Maple syrup urine disease (MSUD) is a defect of amino acid metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. This complex is responsible for breaking down the 3 essential branched-chain amino acids (BCAA): isoleucine, leucine, and valine. […] It classically manifests in the neonatal period with failure to thrive, delayed developmental milestones, feeding difficulties, lethargy, irritability, and a maple syrup odor first noticeable in the cerumen and then the urine. […] If left untreated, the most severe, classic form of MSUD can quickly lead to irreversible neurological injury manifesting as brain damage, seizures, a coma, or central respiratory failure within just 7 to 10 days after birth. […] Classic MSUD is not only the most common subtype of the disorder but also the most severe and dangerous. Characteristic clinical features include: There is little to no BCKAD enzyme activity (0% to 2%).

• #105 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #106 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  This type presents during the first 10 days of life. […] Without treatment, the course of classic MSUD is rapidly progressive and often fatal. […] Ketonuria is detectable 48 to 72 hours after birth, along with the first nonspecific clinical signs of lethargy, vomiting, irritability, and poor feeding. […] Encephalopathy develops 2 to 3 days later with worsening lethargy and intermittent apnea. […] Other symptoms include weight loss, seizures, and muscle tone variability. By 7 to 10 days after birth, coma and central respiratory failure may develop. […] If the MSUD remains untreated, death may follow in 2 months or less. […] Patients with the classic type of MSUD are particularly prone to exacerbations during periods of physical stress, such as with an infection, after surgery, or when fasting or with high protein consumption.

• #107 Maple syrup urine disease: Symptoms, treatment, and outlook

  https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease

  MSUD is a condition where the body does not process certain amino acids. When this occurs, an abnormal buildup of toxins in the blood occurs. […] Without treatment, this can lead to several symptoms and potentially fatal complications. […] Signs of classic MSUD typically appear 24-48 hours after birth, and can include: a maple syrup smell in the urine, weight loss, poor feeding, vomiting, irritability, a tense, arched posture, lack of energy, seizures, muscle tone that changes between limp and stiff, fluid collection in the brain. […] Those with MSUD may also experience metabolic crisis. Symptoms can include: vomiting, lack of energy, breathing difficulties, irritability. […] Without treatment, classic MSUD can lead to respiratory failure and death. […] Symptoms of intermediate MSUD may present during the first month of life. However, in some cases, intermediate MSUD can remain asymptomatic until later in life. Most children receive a diagnosis between 5 months to 7 years old.

• #108 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Intermediate MSUD is a much milder form, typically presenting between 5 months and 7 years of age. Characteristic clinical features include: These patients generally have some BCKAD activity remaining (3% to 30%). […] Symptoms include poor growth, developmental delays, poor intellectual progress, and decreased appetite with anorexia. […] The patient may develop encephalopathy and ketonuria when stressed by an infection, dehydration, high protein meals, or fasting. […] Intermittent MSUD is a rare form of this uncommon disorder. While there is no restrictive age range for its initial presentation, it often appears within the first 1 to 2 years of life. Characteristic clinical features include: Residual BCKAD activity is 5% to 20% of normal. […] Regardless of when it first presents itself, it can progress rapidly.

• #109 RFTS – Home Page

  https://www.wvdhhr.org/nbms/diseases/Maple_Syrup_Urine_Disease.asp

  In contrast, patients with intermediate MSUD (enzyme activity 3%30%) do not present with catastrophic illness during the neonatal period but have gradual neurologic problems, eventually resulting in mental retardation. In one study, most were diagnosed between 5 months and 7 years of age while undergoing evaluation for developmental delay or seizures.116,117 Several patients have had episodes of ketoacidosis, but acute encephalopathy is rare.118 Increased concentrations of BCAAs and BCKAs in serum and urine are present. […] E3-deficient MSUD (E3 deficiency) is rare, with fewer than 20 patients having been described.109,122,123 Clinically, newborn infants with E3 deficiency are similar to patients with intermediate MSUD, but severe lactic acidosis is also present. The infants develop a persistent lactic acidosis between 8 weeks and 6 months of age followed by progressive neurologic deterioration with hypotonia, developmental delay, and movement disorder.

• #110 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #111 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #112 Orphanet: Intermittent maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268173

  Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. […] Unlike classic MSUD, patients with intermittent MSUD show normal growth and intellectual development during infancy and childhood. They may develop symptoms (mainly in childhood) with any catabolic stress (i.e. fasting, dehydration, fever, infections or pregnancy (in adults)). These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor, coma and cerebral edema. […] The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated.

• #113 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  Patients from five families have been described with the thiamine responsive form of maple syrup urine disease (19). The pre-requisites for thiamine responsiveness seem to be an intact E1 subunit, at least 1 allele encoding a full-length E2 subunit (albeit containing a missense mutation), and significant intact cell residual activity. Dietary restriction of leucine is still needed in most thiamine-responsive forms. […] In type 3 maple syrup urine disease, mutations are found in the E3 subunit. The E3 subunit (dihydrolipoamide dehydrogenase) is shared with the pyruvate dehydrogenase complex and alpha-ketoglutarate dehydrogenase complex. BCKAs and alpha-ketoglutarate are elevated in the urine along with elevated plasma concentrations of lactate, pyruvate, BCAA and alanine. About 20 patients have been reported, and the phenotype is characterized by a progressive encephalopathy with metabolic decompensations beginning in infancy. Renal tubulopathy and cardiomyopathy can occur.

• #114 Maple syrup urine disease | MedLink Neurology

  https://www.medlink.com/articles/maple-syrup-urine-disease

  Patients from five families have been described with the thiamine responsive form of maple syrup urine disease (19). The pre-requisites for thiamine responsiveness seem to be an intact E1 subunit, at least 1 allele encoding a full-length E2 subunit (albeit containing a missense mutation), and significant intact cell residual activity. Dietary restriction of leucine is still needed in most thiamine-responsive forms. […] In type 3 maple syrup urine disease, mutations are found in the E3 subunit. The E3 subunit (dihydrolipoamide dehydrogenase) is shared with the pyruvate dehydrogenase complex and alpha-ketoglutarate dehydrogenase complex. BCKAs and alpha-ketoglutarate are elevated in the urine along with elevated plasma concentrations of lactate, pyruvate, BCAA and alanine. About 20 patients have been reported, and the phenotype is characterized by a progressive encephalopathy with metabolic decompensations beginning in infancy. Renal tubulopathy and cardiomyopathy can occur.

• #115 Maple syrup urine disease type II | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ii/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. Liver transplantation can reduce or eliminate the need for dietary management, but it cannot reverse any developmental delays or mood disorders. It is critical to recognize the disease as soon as symptoms appear, in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #116 Maple syrup urine disease (MSUD)

  https://www.health.wa.gov.au/Articles/U_Z/WA-Newborn-Bloodspot-Screening-Program/Conditions-screened-for-in-WA/MSUD

  MSUD usually causes problems very early in the newborn period, such as poor feeding, vomiting, lethargy, hypoglycaemia, seizures, opisthotonic posturing, and coma. […] If not treated, the disease soon leads to death. […] The infant’s urine has a sweet maple syrup smell, which gives the condition its name. […] There are some less severe forms of the condition, the mildest of which may go undetected for months or years. These may be associated with intellectual disability.

• #117 RFTS – Home Page

  https://www.wvdhhr.org/nbms/diseases/Maple_Syrup_Urine_Disease.asp

  Prognosis is poor for the patient with classic MSUD that goes undiagnosed and untreated, with death versus survival with severe neurologic damage as potential outcomes. Patients with classic MSUD who are not treated by 14 days of age generally have a less desirable outcome. […] Even with newborn screening leading to timely treatment, outcome is not perfect. Short attention span and minor learning disabilities were observed even in patients with normal intellect who were treated soon after birth.126

• #118 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Like its classic form, intermediate MSUD initially produces nonspecific symptoms including feeding problems, lethargy, and poor growth, which may worsen to include seizures, brain damage, coma, and life-threatening complications. […] The fourth type, thiamine-responsive MSUD, responds to treatment with vitamin B1 (thiamine), which plays a role in enzyme processing. Symptoms of thiamine-responsive MSUD are similar to intermediate MSUD and rarely occur in the first year of life. […] MSUD can cause irreversible metabolic damage and be life-limiting. For these reasons, its important to diagnose the disease as soon as possible and begin treatment. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #119 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  Babies with MSUD have episodes of illness called metabolic crisis. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur. […] If not treated, other symptoms can follow: episodes where muscle tone alternates between being rigid and floppy, swelling of the brain, seizures, high levels of acidic substances in the blood, called metabolic acidosis, coma, sometimes leading to death. […] Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. Some babies become blind. If not treated, most babies with classic MSUD die within a few months. […] With prompt and lifelong treatment, children with MSUD often have healthy lives with typical growth and development. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. […] Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities, or spasticity.

• #120 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  Individuals with the disease are particularly prone to crisis during illness, infection, or fasting, or after surgery. Older individuals with MSUD often experience attention-deficit/hyperactivity disorder, depression, or anxiety disorders. […] Intermediate MSUD is similar to, but less severe than, the classic form. The age of onset varies, and individuals may not experience severe symptoms in the newborn period. Individuals with intermediate MSUD generally experience poor feeding and growth and often have developmental delay in infancy or early childhood. During times of crisis such as illness, infection, or fasting, or after surgery, the symptoms of intermediate MSUD are nearly identical to those of the classic type. […] This form of the disease is rare. Children with intermittent MSUD generally have normal feeding and growth with no developmental delays. Individuals typically only experience symptoms during illness, fasting, or periods of high protein consumption. As with the intermediate type, in times of crisis, risks and symptoms are similar to those of the classic form.

• #121 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  The following complications can occur: Acute pancreatitis, Blindness, Brain edema, Intracranial ischemia, Deficiency of essential amino acids, presenting as: Acrodermatitis, Growth failure, Anemia, Hair loss, Mental illnesses, Irreversible brain damage, Metabolic acidosis, Muscle spasticity, Osteoporosis, Recurrent esophageal candidiasis (related to T-cell suppression), Convulsions. […] If therapy is not obtained, excess BCAA buildup in MSUD individuals might cause serious tissue damage. […] Elevated maternal plasma concentrations of phenylalanine and leucine are likely teratogenic, posing risks to the developing fetus. For women with MSUD planning a pregnancy, strict metabolic management is essential both before and during gestation. By carefully maintaining the mother’s plasma levels of branched-chain amino acids (BCAAs) within the range of 100 to 300 mol/L, it is possible to deliver a healthy baby. […] To minimize risks, it is highly recommended that delivery take place in a metabolic referral centre with appropriate monitoring and care.

• #122 Trait Document | My46

  https://www.my46.org/trait-document?trait=Maple%20syrup%20urine%20disease&parent=Carrier%20Status&type=profile

  Maple Syrup Urine Disease is a metabolic disorder characterized by the bodys inability to fully break down certain branched chain amino acids called leucine, isoleucine and valine. […] Symptoms of a metabolic crisis are poor feeding, vomiting, lethargy, excessive sleepiness and irritability. If a metabolic crisis is not treated, breathing problems, seizures, coma, and sometimes death can occur. […] Rarely, there are milder variants of MSUD which can lead to poor weight gain, poor growth, irritability or developmental delays later in infancy or childhood. […] It is recommended that an emergency treatment plan is made to ensure that during times of illness, a child with MSUD will be assessed for signs and symptoms of a metabolic crisis (e.g., poor feeding, vomiting, lethargy, excessive sleepiness, irritability) and treated appropriately.

• #123 Maple syrup urine disease type II | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ii/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. Liver transplantation can reduce or eliminate the need for dietary management, but it cannot reverse any developmental delays or mood disorders. It is critical to recognize the disease as soon as symptoms appear, in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #124 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. […] It is critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

• #125

  https://www.jscreen.org/hereditary-diseases/maple-syrup-urine-disease?srsltid=AfmBOoo-J7B7NwNEyzk_iKey5eBEscVu0G-6kE2loRxAvnYuPfMuvB7g

  Intermediate MSUD is similar to but less severe than the classic form. During periods of crisis, however, symptoms and risks are nearly identical. […] Symptoms of the disease may not appear until the first or second year of life. Symptoms often appear during illness, fasting, or periods of high protein consumption. […] In times of crisis, the risks and symptoms of thiamine-responsive MSUD are similar to the classic form. […] With early, careful, and lifelong treatment, people with MSUD type 1B can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability. […] Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These may create learning problems or mental disability and can be life-threatening. […] If untreated, MSUD can be fatal.

• #126 Maple syrup urine disease type Ia | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ia/

  If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, people with MSUD can live healthy lives into adulthood and show normal growth and mental development. […] It is critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability. Despite careful treatment, some people with the disease will experience periodic flare-ups, particularly during times of illness. These episodes may create learning problems or intellectual disability and can be life-threatening.

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