Materiały źródłowe

• #1 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] In fact, clinical presentations can vary a lot among different IMDs in terms of symptoms and course of the disease. Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] The clinical manifestations of these disorders are highly variable and can include symptoms such as weakness, exercise intolerance, neurological deficits, lactic acidosis, and multi-organ failure. […] Common symptoms associated with these disorders may include epilepsy, intolerance to physical exercise, cardiomyopathy, and microcephaly.

• #2 Mayo Clinic Health Library – Inherited metabolic disorders | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20303979

  There are hundreds of inherited metabolic disorders caused by different genes. Symptoms depend on the type of disorder and how severe it is. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal.

• #3 Metabolic disorder: what is it, symptoms and treatment | Top Doctors

  https://www.topdoctors.co.uk/medical-dictionary/metabolic-disorder

  Metabolic disorders are different conditions that affect the bodys metabolism and ability to break down food. Metabolic disorders are commonly inherited from family where they have inherited a defective gene which results in enzyme deficiency. […] There are hundreds of different metabolic disorders and the symptoms, prognosis and treatment can differ a lot. […] The symptoms of metabolic disorders vary depending on the type of disorder and can either be chronic or come on suddenly. In inherited metabolic disorders, symptoms can present soon after birth, but some only wont be obvious for years. Symptoms can include: Fatigue, Nausea, Weight loss, Poor appetite, Abdominal pain, Seizures, Jaundice, Developmental delays, Coma. […] Depending on the type of metabolic disorder and how well it is managed, children and adults can become quite ill and need hospitalisation with metabolic disorders. Some that are detected at birth, if treated can be managed well. […] Inherited metabolic disorders cannot be prevented, however, if managed and treated early on, the prognosis is often better.

• #4 Metabolic Diseases | List | Causes | Treatment

  https://functionalmedsystem.com/en/metabolic-diseases/

  Hereditary Metabolic Diseases are biochemical metabolic disorders caused by gene mutations resulting in the problematic functioning of one or more enzymes. Enzymes are key-players of normal chemical reactions in our body, in the absence of which substances that cannot be metabolized accumulate and are often toxic to the human body. […] They can occur at any age, from infancy to old age. […] If the function that is disturbed by an endogenous metabolic disorder is necessary for the proper functioning of the body, and the degree of disorder is capable of affecting the whole system, we may have the appearance of clinical manifestations. […] An inherited Metabolic Disease can be manifested in birth, denial of food, vomiting, convulsions, drowsiness, heart, liver or kidney problems. It may also be that the child is born normally and the symptoms develop after months or years, with unexplained episodes of vomiting, diarrhea, convulsions, somnolence and coma, during an infection or on the occasion of a change in diet.

• #5 Inherited Metabolic Disorders Care at OHSU

  https://www.ohsu.edu/doernbecher/inherited-metabolic-disorders

  OHSU Doernbecher Childrens Hospital provides state-of-the art care for people with inherited metabolic disorders. […] Symptoms can begin before birth or a few weeks after. Sometimes symptoms don’t appear until late childhood or adulthood. […] Key symptoms include: […] Sleepiness and lack of energy […] Confusion or abnormal behavior […] Poor appetite […] Vomiting […] Jaundice (yellow skin) […] Not gaining weight or growing […] Seizures. […] Inherited metabolic disorders often can’t be cured. In most cases, people have them for life. We focus on getting metabolism as close to normal as possible. […] Symptoms can develop after intense exercise or after a person goes a long time without eating. […] Problems can range from muscle fatigue to learning disabilities.

• #6 Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10578465/

  The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. […] Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. […] Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. […] Common symptoms and signs in the neonatal period are vomiting, refusal to eat, lethargy, coma, hypotonia, convulsions, visceromegaly, and liver or heart failure. […] The most frequent clinical manifestations were encephalopathy (n=17; 85%), hypotonia (n=12; 60%), feeding refusal (n=14; 70%), hypoglycaemia (n=7; 40%) and seizures (n=8; 40%).

• #7 What Are Metabolic Disorders? Understanding Newborn Screening Tests

  https://www.whattoexpect.com/first-year/metabolic-disorders-in-children.aspx

  Newborn screenings can detect dozens of metabolic disorders, allowing your baby to be treated before symptoms arise. […] Most infants with metabolic disorders appear perfectly healthy when they’re born. Depending on the disorder, they might start to show symptoms days, months or sometimes even years after birth. […] Symptoms vary based on the specific disorder. In many cases, early signs might include lethargy, poor feeding, vomiting, poor weight gain and even seizures.

• #8 Metabolic disorder in infants: Symptoms, treatments, and outlook

  https://www.medicalnewstoday.com/articles/what-to-know-about-metabolic-disorder-in-infants

  Some metabolic disorders can cause severe health problems or be life threatening. Additionally, some infants with these metabolic disorders have an increased risk of developing neurological problems and learning disabilities. […] Newborn babies may have no symptoms of these disorders and gradually over the following days to months become lethargic, fail to gain weight, and have digestive issues.

• #8 Metabolic disorder in infants: Symptoms, treatments, and outlook

  https://www.medicalnewstoday.com/articles/what-to-know-about-metabolic-disorder-in-infants

  Babies and infants with metabolic issues may present with a wide range of symptoms depending on the specific disorder. […] Infants with metabolic disorders may appear healthy when they are born and then begin to develop symptoms in the following days, weeks, or months. They may also have nonspecific symptoms. […] Symptoms may include: lethargy or extreme tiredness, fussiness, weakness, poor feeding, fast breathing or short periods without breathing, vomiting, poor weight gain, seizures, absence of hair, or alopecia, ichthyosis, or dry, thickened, scaly skin, enlarged liver, spleen, and kidneys, jaundice (yellowing of the skin or eyes), facial irregularities, specific odors of the breath or urine. […] The outlook for infants with inherited metabolic disorders varies depending on the specific condition.

• #9 Metabolic Disorders | Riley Children’s Health

  https://www.rileychildrens.org/health-info/metabolic-disorders

  Metabolic disorders can affect the utilization of protein, fat or carbohydrates or a combination of these. Most are inherited genetic conditions. Metabolic disorders are lifelong conditions, but in general, early treatment can alter their natural progression. […] If your child has a metabolic disorder, symptoms may appear only a few days after birth, or they could take years to develop (this is rare). Symptoms may not be evident until the body is stressed by illness or fasting. […] The symptoms of metabolic disorders may include: Abnormal odor of breath, sweat and urine, Somnolence (excessive sleepiness), Developmental delay, Failure to thrive (in infants), Jaundice, Lethargy, Poor appetite, Seizures, Vomiting. […] Most metabolic disorders are inherited conditions.

• #10 Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10578465/

  The newborns in the small molecule IMD group typically had a symptom-free period after birth. […] Neurologic involvement with encephalopathy, hypotonia and seizures were our population’s most frequent symptoms and signs, which agrees with other studies, since 85% of IMD display predominant neurological manifestations. […] The rate of neurologic deterioration varies considerably depending on the nature and severity of the metabolic defect. […] Thus, we should suspect IMD when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. […] In our cohort, four newborns presented with heart failure and five with shock. […] Mortality was high (7 of 20 patients; 35%) in our series. All these patients died before two years of age, and the current median of age of survivors is four years.

• #11 Metabolic disease | Definition, Origins, Types, & Facts | Britannica

  https://www.britannica.com/science/metabolic-disease

  Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids). […] The onset of symptoms usually occurs when the body’s metabolism comes under stress—for example, after prolonged fasting or during a febrile illness. […] The consequences of metabolic imbalance may be severe; intellectual disability, seizures, decreased muscle tone, organ failure, blindness, and deafness may occur, depending on which enzyme is dysfunctional.

• #12 Metabolic Disorders – Toronto Centre for Neonatal Health

  https://torontocentreforneonatalhealth.com/education-opportunities/elearning/inherited-metabolic-disorders/

  Various inherited metabolic disorders can present in the neonatal period mimicking hypoxic-ischemic encephalopathy, sepsis, intraventricular hemorrhage, intoxications, or congenital viral infections. Early diagnosis is crucial for two reasons: 1) application of disease specific treatments for treatable inherited metabolic disorders; 2) prognosis and outcomes for non-treatable inherited metabolic disorders. Metabolic investigations should be initiated in newborns, who have not responded to the symptomatic treatment, in the first days of their admission to the neonatal intensive care unit to prevent mortality or long-term morbidity for the treatable inherited metabolic disorders. […] Presence of following clinical and biochemical features: Seizures not responding to conventional anti-epileptic drugs, Unusual body odor such as caramelized sugar (maple syrup urine disease) or sweaty feet (isovaleric acidemia), History of normal delivery and feeding in the first 2-3 days of life, which is followed by progressive encephalopathy, feeding intolerance and vomiting, Hypoglycemia with normal endocrinological investigations, Lactic acidosis without history of hypoxia or cardiac or respiratory insufficiency, Acute hepatic dysfunction including cellular and synthetic liver functions, Anion gap elevated metabolic acidosis, Hypoglycemia associated with liver dysfunction and rhabdomyolysis.

• #12 Metabolic Disorders – Toronto Centre for Neonatal Health

  https://torontocentreforneonatalhealth.com/education-opportunities/elearning/inherited-metabolic-disorders/

  Inherited metabolic disorders cause anion gap elevated metabolic acidosis due to accumulation of organic acids, ketone bodies or lactate. Lactate should be 6mmol/L to cause metabolic acidosis. The major category of inherited metabolic disorders presenting with metabolic acidosis: Organic acidurias due to accumulation of organic acids: significant hyperammonemia, metabolic acidosis and elevated urine ketones should be present. Maple syrup urine disease (MSUD) due to accumulation of branched chain ketoacids: elevated urine ketones should be present in the presence of normal ammonium. Ketolysis defects due to accumulation of ketone bodies: mild to moderate hyperammonemia and hypoglycemia should be present. […] Inherited metabolic disorders presenting with hyperammonemia: Urea cycle disorders with respiratory alkalosis (significant ammonium elevation), Organic acidurias with anion gap elevated metabolic acidosis (significant ammonium elevation), Ketolysis defects with hypoglycemia and metabolic acidosis (mild to moderate ammonium elevation), Fatty acid oxidation defects with hypoglycemia and elevated CK (mild to moderate ammonium elevation).

• #12 Metabolic Disorders – Toronto Centre for Neonatal Health

  https://torontocentreforneonatalhealth.com/education-opportunities/elearning/inherited-metabolic-disorders/

  With normal glucose: multiple carboxylase deficiency, mitochondrial respiratory chain defects, pyruvate dehydrogenase deficiency. With hypoglycemia: pyruvate carboxylase deficiency, fructose 1,6 biphosphatase deficiency, glycogen storage disease type 1, fatty acid oxidation disorders. […] Cholestatic jaundice: Smith-Lemli-Opitz syndrome, congenital disorders of glycosylation, galactosemia, Niemann-Pick disease type C, peroxisomal biogenesis disorders, tyrosinemia type 1, alpha-1-antitripsin. Hepatocellular dysfunction or liver failure: galactosemia, tyrosinemia type 1, glycogen storage disease type IV.

• #13 Neurometabolic Program | Boston Children’s Hospital

  https://www.childrenshospital.org/programs/neurometabolic-program

  When there are defects in the enzymes that help break these products down, the waste products accumulate in the cell, causing varied symptoms that can include developmental delay, neurological problems, seizures, hearing and vision loss, and enlarged liver and/or spleen. […] Symptoms generally get progressively worse.

• #14 Genetic & Metabolic diseases | Immedica

  https://www.immedica.com/en/genetic-metabolic-diseases

  Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely. […] Symptoms of the disorder can begin at any age, with more severe defects beginning early in life. UCD patients may experience episodes, called hyperammonemic crises, when ammonia levels in the blood become excessively high, which can result in irreversible brain damage, coma, or death. Beyond hyperammonemic crises there are also more subtle symptoms including vomiting, refusal to feed, irritability, muscular hypotonia as well as delayed motor and psychointellectual development. […] Patients are often diagnosed in late infancy or early childhood and the symptoms include spasticity, seizures, developmental delay, intellectual disability, and early mortality.

• #15 Metabolic disorders

  https://www.rch.org.au/clinicalguide/guideline_index/metabolic_disorders/

  Metabolic disorders present at all ages with a variety of symptoms and signs that mimic common childhood illness. A high index of suspicion is needed to make a diagnosis […] Consider a metabolic disorder in any newborn with unexplained encephalopathy or progressive illness, particularly following an uncomplicated pregnancy and birth […] Progression of symptoms across childhood: developmental delay or regression, recurrent unexplained vomiting, recurrent illness precipitated by catabolic episodes (infection, exercise, fasting) or certain foods or medicines, aversion to certain foods eg protein, fruit, unexplained neurological symptoms (behavioural changes, encephalopathy, seizures, ataxia), unexplained exercise intolerance (myalgia, rhabdomyolysis), acquired hepatomegaly and/or splenomegaly.

• #16 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Common symptoms might include failure to thrive, microcephaly, aciduria, developmental delay and dysmorphic features. […] These metabolic disorders can lead to various health issues, including immune deficiencies, neurodevelopmental disorders, epilepsy and muscle weakness, underscoring the critical role of nucleotide metabolism in overall cellular function and health. […] Disorders of heme breakdown, instead, are due to deficiencies in the enzymes which are part of the degradation pathway of the heme moiety. Common symptoms include hyperbilirubinemia, hypoxia and jaundice.

• #17 Citrullinemia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/citrullinemia/

  Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. […] Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, blind spots (scotomas), problems with balance and muscle coordination (ataxia), and lethargy. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder.

• #18 Inborn errors of metabolism – Wikipedia

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

  Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every „presenting complaint” to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence. The following are examples of potential manifestations affecting each of the major organ systems. […] Growth failure, failure to grow, loss of weight […] Ambiguous genitalia, delayed puberty, precocious puberty […] Developmental delay, seizures, dementia, encephalopathy, stroke […] Deafness, blindness, pain agnosia […] Skin rash, abnormal pigmentation, lacking of pigmentation, excessive hair growth, lumps and bumps […] Dental abnormalities […] Immunodeficiency, low platelet count, low red blood cell count, enlarged spleen, enlarged lymph nodes

• #19 Inborn error of metabolism | Genetics, Causes & Treatment | Britannica

  https://www.britannica.com/science/inborn-error-of-metabolism

  Although certain inborn errors of metabolism are apparent at or shortly after birth, others may not become obvious until early childhood. Certain symptoms vary according to the specific disorder, but, in general, affected individuals have a poor appetite or unusual food preferences (e.g., aversion to protein), may fail to thrive, may be lethargic, and may experience developmental delays. […] Inborn errors of metabolism can result in injury to virtually any tissue, but the most dramatic and characteristic consequence in untreated or severe cases is damage to the developing brain. Neurological disease often appears clinically as encephalopathy (abnormal brain function and structure). Encephalopathy reflects the accumulation of an otherwise normal metabolite that becomes toxic when present in excess concentration. An example is the extreme elevation of the amino acid phenylalanine that accompanies a congenital defect of phenylalanine hydroxylase, the mutant enzyme in classical phenylketonuria (PKU). The biochemical sequence that leads from phenylalanine accumulation to intellectual disability remains obscure, although it is likely that the underlying pathophysiology evokes alterations of brain energy metabolism, neurotransmitter synthesis, and myelin formation (myelin is the insulating material found around the axons of neurons).

• #20 Genetic Metabolic Disorder Test: Detect Inherited Metabolic Disease

  https://diagnostics.medgenome.com/metabolic-genetics/

  Inherited metabolic disorders have a defective gene that results in an enzyme deficiency. […] The onset of symptoms could be sudden or could progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms of several metabolic conditions appear within a few weeks of birth. Other inherited metabolic disorders might take years to develop. […] Some of the commonly seen symptoms are: Weight loss, Failure to gain weight or grow, Lethargy, Poor appetite, Abdominal pain, Vomiting, Jaundice, Seizures, Developmental delay, Coma, Abnormal odour of urine, breath, sweat, or saliva.

• #21 Quick Facts:Overview of Hereditary Metabolic Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/quick-facts-children-s-health-issues/hereditary-metabolic-disorders/overview-of-hereditary-metabolic-disorders

  Because there are hundreds of metabolic disorders, there are many different symptoms. However, very often newborn babies have symptoms such as: […] Not eating well […] Throwing up a lot […] Appearing weak and tired […] Having seizures […] Later in infancy, babies may not grow and develop normally.

• #22 Inherited Metabolic and Neurodegenerative Disorders – Clinical Tree

  https://clinicalpub.com/inherited-metabolic-and-neurodegenerative-disorders/

  Inherited metabolic brain disorders produce changes in brain metabolism and structure as a result of genetic mutations. Clinically, children with metabolic brain disorders often present with nonspecific symptoms, such as hypotonia, seizures, and developmental delay, which often makes diagnosis difficult. […] Because these disorders generally are progressive, the classification of neurodegenerative features also is used appropriately as imaging findings worsen for example, cortical volume loss, gliosis, and hypomyelination. The clinical course is progressive and typically includes mental retardation with signs of long tract dysfunction, such as pyramidal and cerebellar disturbances, with abnormal conduction of visual auditory and somatic sensory input as measured by evoked potentials. […] Symptoms in these children may be similar to those in children with a leukodystrophy.

• #23 Metabolic Disorders – National Stem Cell Foundation

  https://nationalstemcellfoundation.org/glossary/metabolic-disorders/

  There are thousands of metabolic disorders with symptoms that range from mild to devastating. Symptoms vary from syndrome to syndrome, but often include developmental delays, vision and hearing problems, loss of intellectual function, muscle weakness, seizures, abnormal movements, stunted growth, pain and shortened life span. […] A successful bone marrow or stem cell transplant may help slow or halt the progression of certain syndromes, but early diagnosis is critical to prevent irreversible disease progression.

• #24 Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/

  Inherited metabolic disorders presenting with gastrointestinal (GI) symptoms are characterized by the dysfunction of the esophagus, stomach, small and large intestines, and pancreas. […] Feeding difficulties represent the most common abnormality reported for IMDs with GI involvement (37%) followed by intestinal problems (30%), vomiting (22%), stomach and pancreas involvement (8% each), and esophagus involvement (4%). […] GI symptoms can affect any portion of the GI tract; some symptoms are more prevalent in certain classes of IMD. […] More generalized symptoms such as feeding difficulties, vomiting, nausea, and drooling are also found. […] Feeding difficulties represent the most common abnormality reported for IMDs with GI involvement (127/339; 37%) followed by intestinal problems (103/339; 30%), vomiting (75/339; 22%), stomach and pancreas involvement (28/339; 8% each), and esophagus involvement (15/339; 4%).

• #25 Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/

  Symptoms can also derive from the organs of the digestive tract, including the pancreas. […] Vomiting and feeding difficulties are also commonly observed, as many affected individuals cannot tolerate protein ingestion and must follow a protein restricted diet. […] Chronic vomiting is a characteristic feature among branched-chain organic acidurias and urea cycle disorders in which hyperammonemia occurs. […] Pancreatitis can be a complication in citrin deficiency, maple syrup urine disease (types 1a, 1b, and 2), isovaleric acidemia, hydroxymethylglutaric aciduria, propionic acidemia, methylmalonic aciduria, and -ketothiolase deficiency, disorders in which acidosis, ketosis, vomiting, and abdominal pain are common during crises of metabolic decompensation. […] Symptoms of biotinidase deficiency derive from the patients inability to reutilize biotin. Feeding difficulties, vomiting, diarrhea, glossitis, and stomatitis may be seen.

• #26 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  The symptoms of genetic metabolic disorders vary widely depending on the metabolism problem present. Some symptoms of inherited metabolic disorders include: Lethargy, Poor appetite, Abdominal pain, Vomiting, Weight loss, Jaundice, Failure to gain weight or grow, Developmental delay, Seizures, Coma, Abnormal odor in your pee, breath, sweat, or saliva […] The symptoms may come on suddenly or progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms appear within a few weeks after birth in many conditions. Other inherited metabolic disorders may take years to develop symptoms.

• #27 Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/

  Vomiting can occur across multiple age groups: during infancy (lipoyltransferase 1 deficiency), during childhood (along with hemorrhagic pancreatitis in NFS1 deficiency) or induced by exercise in childhood and adolescence (ferredoxin 2 deficiency), extending into adulthood in ISCU deficiency, which is characteristic of this disorder. […] Gastroesophageal reflux may occur during infancy in cases of ISCA2 deficiency. […] GI symptoms are frequently observed. […] GI dysfunction is common, leading to feeding difficulties, failure to thrive, vomiting, and diarrhea. […] Cachexia is also seen, and affected individuals tend to be extremely thin, their poor weight gain sometimes falsely attributed to anorexia nervosa. […] GI symptoms are a relatively common yet often overlooked feature of many primary mitochondrial disorders, affecting approximately 15% of patients with MtDNA disease.

• #28 Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/

  Cyclic vomiting, constipation, diarrhea, impaired gut motility, and failure to thrive are observed in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). […] GI symptoms are also relatively common, with chronic diarrhea occurring in 65-70% of MELAS patients. […] Acute onset of intestinal obstruction requiring surgical intervention has been described in siblings with no prior clinical findings suggestive of mitochondrial disease. […] GI symptoms may predominate in early infancy in Infantile Refsum disease (IRD), with diarrhea, steatorrhea, vomiting, and malabsorption. […] Abdominal pain and diarrhea are the GI symptoms observed most often and occur more frequently in males than in females. […] In the mucopolysaccharidoses, particularly MPS I and MPS III, GI symptoms can include frequent diarrhea.

• #29 Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/

  Chronic diarrhea in mucopolysaccharidosis IIIB. […] GI disease, other infectious diseases, and stressful events may precipitate these episodes and immediate therapeutic action is required. […] GI ulceration with dysfunctional platelets (GURDP) is found in cases of cytosolic phospholipase A2 deficiency. […] Occult GI blood loss and frequent bouts of abdominal pain have been reported during childhood and adolescence.

• #30 Inborn errors of metabolism – Wikipedia

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

  Many forms of cancer […] Recurrent vomiting, diarrhea, abdominal pain […] Excessive urination, kidney failure, dehydration, edema […] Low blood pressure, heart failure, enlarged heart, hypertension, myocardial infarction […] Liver enlargement, jaundice, liver failure […] Unusual facial features, congenital malformations […] Excessive breathing (hyperventilation), respiratory failure […] Abnormal behavior, depression, psychosis […] Joint pain, muscle weakness, cramps […] Hypothyroidism, adrenal insufficiency, hypogonadism, diabetes mellitus.

• #31 Metabolic disorders: Types, causes, and symptoms

  https://www.medicalnewstoday.com/articles/metabolic-disorders

  Metabolic disorders are conditions that affect any aspect of metabolism. Symptoms can include tiredness, weight loss or gain, and nausea and vomiting. […] The disorders include a range of conditions that cause different symptoms and complications within the body. […] Common symptoms include: tiredness, muscle weakness, unexpected weight gain or loss, changes in skin color, stomach pain, nausea or vomiting, reduced appetite, developmental problems in babies and infants. […] Metabolic disorders can have a wide range of impacts on the body. […] Symptoms of a metabolic condition can worsen without treatment and may lead to serious complications.

• #32 Metabolic disorders

  https://bwc.nhs.uk/metabolic-disorders/

  female doctor Within the Inherited Metabolic Disease (IMD) team, we deal with many different types of conditions ranging from deficiencies in enzymes to the body unable to use certain nutrients. […] Typical symptoms may include being sick, drowsy, developing liver failure and low blood sugar levels. […] Newborns show worrying signs including poor feeding, lethargy and convulsions within the first few days of life. Less severe patients may become unsteady or confused during illnesses. […] Typical symptoms can include being short compared to other children, low sugar levels unless eating regularly, having a big tummy (enlarged liver), weak muscles and muscle pain. […] Symptoms may include poor growth, irritability, vomiting, seizures and confusion. […] Symptoms are rare in childhood but they can lead to early heart disease in young adults.

• #33 Neurometabolic Disorder | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/neurometabolic-disorder/

  Neurometabolic disorders may result in uncontrollable epilepsy, abnormal movements or loss of developmental milestones. […] Symptoms of these conditions typically appear very early in life. […] Patients with a neurometabolic disorder may have: Uncontrollable epilepsy, Loss of developmental skills, Abnormal or uncontrollable movements, Muscle weakness, Vision problems (such as retinal abnormalities, cataracts or cortical blindness), Hearing problems, Abnormal head growth (such as macrocephaly or microcephaly).

• #34 Metabolic disorders

  https://bwc.nhs.uk/metabolic-disorders/

  The defects can result in a wide variety of problems including developmental delay, multisystem disease and physical handicaps. […] Some symptoms include facial deformities, joint stiffness, difficulty breathing, problems with hearing/vision and delays in intellectual and physical development. […] These are sadly usually not treatable and lead to a shortened life expectancy.

• #35 Types of inherited Metabolic Disorders

  https://www.parashospitals.com/blogs/types-of-inherited-metabolic-disorders

  A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process. […] These kinds of disorders can be a result of genetics, a deficiency in a certain hormone or enzyme, consuming too much of certain foods, or a number of other factors. […] It is hence imperative to be aware of the different types of genetic disorders so that one can take steps to detect any abnormality at the right time and also take steps to correct the same. […] Hurler Syndrome: It is also known as an abnormal structure of bone and delay in growth. […] Niemann-Pick Disease: It is a disease wherein which babies suffer from feeding difficulty, nerve damage and develops enlargement of the liver. […] Tay-Sachs Disease: it is a developing weakness within a months old baby, developing to severe damage of nerve. In such cases, a child usually does not live beyond the age of 5 years. […] Gaucher Disease: This disease involves, enlarged liver, bone pain, and low platelet counts, in children or in adults. […] Fabry Disease: This disease affects males only. They comprise of pain in the extremities during childhood, with heart and kidney disease and stroke in adulthood. […] Krabbe Disease: It refers to progressive damage of nerve, delayed development in young children and occasional adverse effect on adults.

• #35 Types of inherited Metabolic Disorders

  https://www.parashospitals.com/blogs/types-of-inherited-metabolic-disorders

  Impaired break down of sugar galactose results in vomiting, jaundice, and enlargement of liver post breast feeding or formula feeding to a newborn. […] In this disease, deficiency of BCKD enzyme results in the creation of amino acids in our body. The result is damaged nerves and the smell of urine like that of syrup. […] Deficiency of enzyme known as PAH leads to the high amount of phenylalanine in our blood. The results in mental retardation if not recognized early. […] Problem with storage of sugar causes low levels of blood sugar, pain in muscles and weakness. […] These are related to malfunctioning within mitochondria which is the powerhouse of cells. This condition results in damage of muscles. […] Problems relevant to frataxin protein causes damage in the nerves and often results in heart problems. It can also lead to an inability to walk from young adulthood.

• #36 Hypoglycaemia related to inherited metabolic diseases in adults | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-26

  In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. […] Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. […] In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. […] Hypoglycaemia may sometimes be a presenting sign of the IEM. […] Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. […] In both adults and children, hypoglycaemia can be clinically classified according to its timing. […] Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD) type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders.

• #37

  https://www.meetaugust.ai/library/en/diseases-conditions/view/inherited-metabolic-disorders

  Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): In MELAS, the mitochondria, which are the powerhouses of cells, don’t work properly. This leads to a range of symptoms, including muscle weakness, seizures, developmental delays, and stroke-like events. […] These are just a few examples. There are many more inherited metabolic disorders, each with its unique set of symptoms and challenges. […] Inherited metabolic disorders are rare conditions where a person’s body has trouble processing certain nutrients. The way these disorders affect a person varies greatly, depending on the specific type and how severe it is. […] Treatment for these disorders is also quite diverse. It might involve special diets designed to limit or avoid certain foods. In some cases, doctors might use enzyme replacement therapy, where a missing or faulty enzyme is given to help the body function better. Vitamin supplements, medications, and even liver transplants are sometimes needed. Initial treatment may involve a stay in the hospital. Sadly, some inherited metabolic disorders don’t have any available treatments yet. […] Ongoing care is crucial. Regular visits with specialists are essential to catch any problems early and adjust treatment plans as needed to manage the disorder throughout a person’s life.

• #37

  https://www.meetaugust.ai/library/en/diseases-conditions/view/inherited-metabolic-disorders

  Many inherited conditions affect how the body processes food. These conditions, called inherited metabolic disorders, happen because of problems with specific genes. Each disorder is different, and symptoms vary greatly depending on which gene is affected and how much it’s affected. […] Hunter syndrome: This disorder affects the body’s ability to break down certain substances. Symptoms can include problems with growth, development, and the body’s immune system. […] Krabbe disease: This disorder impacts the body’s ability to make certain fats, crucial for healthy nerve function. Early symptoms can include developmental delays and problems with movement and coordination. […] Maple syrup urine disease: This is a condition where the body struggles to process certain amino acids (building blocks of proteins). The name comes from the distinctive sweet smell of urine in affected individuals. Symptoms can range from mild to severe, often appearing shortly after birth, and can include feeding difficulties, lethargy, and neurological issues.

• #38

  http://hospitals.aku.edu/pakistan/diseases-and-conditions/Pages/metabolic-disorders.aspx

  Metabolic disorders are inherited genetic conditions that result in problems with the bodys metabolism. Many metabolic disorders are present in the new-born period or shortly thereafter. Symptoms of Metabolic Disorders are disease specific and can vary remarkably. Few are listed below: Inborn Metabolic Disorders (presenting with coma) […] When a defective gene causes an enzyme deficiency inborn errors of metabolism (IEM) occur. They can present with variable presentations: Low blood sugar, presence of acids in blood (metabolic acidosis or lactic acidosis), presence of acids in urine (ketonuria), high ammonia (hyperammonemia) […] Lethargy, Poor appetite, Vomiting, Weight loss, Jaundice, Seizures, Coma, progressive enlargement of liver/spleen […] Abnormal odour of urine, breath, sweat, or saliva

• #38

  http://hospitals.aku.edu/pakistan/diseases-and-conditions/Pages/metabolic-disorders.aspx

  Neuro-metabolic Disorder […] Intractable seizures, Muscle pain, […] Developmental delay or mental retardation […] Neuroregression seen in children who were previously normal. […] Seizures not responding to usual anti-convulsants […] such seizures can be identified early in their presentation, after failure of two antiseizure drug trials […] Storage Disorders […] Progressive enlargement of liver/spleen, which may occur in presence or absence of developmental delay or neuroregression. […] Low blood sugar, low blood sodium, hyperosmolar non-ketotic hyperglycemia, high blood sodium, low blood calcium and high blood urea. […] Metabolic Cardiomyopathy […] Impaired myocardial functions either Dilated Cardiomyopathy or Hypertrophic Cardiomyopathy can be seen in IEM. Most IEM related cardiomyopathies are treatable and reversible. […] Metabolic Liver Diseases […] Enlarged liver with or without impaired liver functions (LFTs) can be due to a number of IEM.

• #39 Hypoglycaemia related to inherited metabolic diseases in adults | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-26

  Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD), ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency)]. […] Although rare, hypoglycaemia may be a presenting sign of IEM, even in adulthood, and must not be overlooked. […] In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. […] Hypoglycaemia can sometimes be an indicator of IEM and, although these situations are rare in adults, it is important not to overlook them.

• #40 Metabolic Disorders: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/digestive/weight-loss-and-metabolic-disorders/metabolic-disorders

  Inherited metabolic disorders may affect about one in 1,000 to 2,500 newborns. […] Common symptoms of metabolic disorder include: Tiredness, Muscle weakness, Unexpected weight gain or loss, Changes in skin color, Stomach pain, Nausea or vomiting, Reduced appetite, Developmental problems in babies and infants. […] Gaucher’s disease and phenylketonuria (PKU) are examples of inherited metabolic disorders. […] Metabolic disorders negatively affect parts of the body that are directly involved in metabolism, such as the liver or kidneys, resulting in a range of complications. […] Without treatment, signs of a metabolic condition will worsen, leading to major complications.

• #41

  https://www.nicklauschildrens.org/conditions/metabolic-storage-diseases

  Signs and symptoms vary widely based on which enzyme is deficient, and which cells/organ of the body are impacted. […] Symptoms can include: Enlarged organs (enlarged tongue, liver, spleen, etc.) […] Impaired kidney function […] Impaired brain function […] Eye abnormalities […] Heart abnormalities.

• #42 Metabolic diseases | healthdirect

  https://www.healthdirect.gov.au/metabolic-diseases

  Porphyria is caused by problems with red blood cells. It has a wide range of symptoms making it hard to diagnose. […] Babies with Tay-Sachs develop slowly, lose vision and speech and typically don’t reach school age. It’s more common in certain genetic groups. […] Type 1 diabetes can affect people of any age but is most often diagnosed in young people. […] Type 2 diabetes occurs when your body doesn’t make enough insulin or doesn’t use it well.

• #43 Signs and Symptoms of Metabolic Myopathies – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/metabolic-myopathies/signs-and-symptoms

  People with debrancher enzyme deficiency, carnitine deficiency and acid maltase deficiency may develop significant heart problems. […] The main symptom of most of the metabolic myopathies is difficulty performing some types of exercise, a situation known as exercise intolerance, in which the person becomes tired very easily. […] A person with exercise intolerance also may experience painful muscle cramps and/or injury-induced pain during or after exercising. […] Although the metabolic muscle diseases characterized by exercise intolerance typically dont involve muscle weakness, some chronic or permanent weakness can develop in response to repeated episodes of rhabdomyolysis and to the normal loss of strength that occurs with aging. […] However, in acid maltase deficiency, carnitine deficiency and debrancher enzyme deficiency, progressive muscle weakness, rather than exercise intolerance, is the primary symptom. […] Acid maltase deficiency and debrancher enzyme deficiency tend to weaken the respiratory muscles (those that operate the lungs), meaning that a person with one of these disorders may require supplemental oxygen or mechanical respiratory assistance at some point.

• #44

  https://www.hpa.gov.tw/EngPages/Detail.aspx?nodeid=1075&pid=12954

  Infants with the disease cannot metabolize galactose, and present vomit and drowsy after feeding, and damage to the eyes, liver, and brain. […] Failure to receive timely treatment could lead to jaundice and subsequently, intellectual disabilities or death. […] Clinical symptoms usually appear in the first two years after birth. The baby is unable to metabolize a group of fats due to the lack of medium-chain acyl-coenzyme A dehydrogenase. The buildup of fats accumulates in the body and becomes toxic, causing damage to the brain and nervous system, triggers vomiting, liver enlargement, hypoglycemia, loss of consciousness, coma, seizures, etc. […] The buildup of toxins, such as glutaric acid in the bloodstream and tissues can cause progressive neurological symptoms and acute metabolic abnormalities.

• #44

  https://www.hpa.gov.tw/EngPages/Detail.aspx?nodeid=1075&pid=12954

  It can help your baby by detecting inherited metabolic abnormalities early, so your baby can have early treatment to reduce physical or cognitive impairment caused by the disease. […] Newborns with hypothyroidism are almost asymptomatic and usually start developing symptoms at two to three months after birth. Hypothyroidism is the lack of thyroid hormones in the infant, thus affecting the brain and the development of the body. If left untreated 6 months after birth, most likely, the baby has severe intellectual disability, growth delay, and small body size. […] Symptoms such as growth delay or the mold smell of the urine and body odor usually appear at three to four months after birth. Phenylketonuria can lead to severe intellectual deficiency. […] If left untreated, the baby may have complications such as skeletal deformity, learning, and intellectual disabilities, and thrombosis.

• #45 Metabolic Disorders: Symptoms, Causes, Diagnosis, Treatment

  https://www.verywellhealth.com/metabolic-disorders-7368902

  The symptoms of metabolic disorders will vary depending on the part of metabolism being impacted. Many of these conditions are evident from birth, but some symptoms may not develop until later. Common symptoms among metabolic disorders include: […] Fatigue […] Muscle pain or weakness […] Headaches […] Developmental delays in infants and children […] Nausea […] Vomiting […] Low appetite […] Seizures.

• #46 Types of Inherited Metabolic Disorders as Explained by Endocrinologist at the Ck Birla Hospital

  https://www.ckbhospital.com/blogs/inherited-metabolic-disorders/

  Inherited metabolic disorders can be highly diverse in their origin and cause as it affects the body in a lot of different ways. But the most common signs are: […] Fatigue or tiredness […] Muscle weakness due to mitochondrial dysfunction. […] Sudden or unexplained weight gain or loss. […] Patchy colourless skin […] Stomach ache and nausea […] Lack of proper appetite […] Developmental issues in babies and infants. […] In type 1 the T cells kill beta cells that produce insulin. Due to this deficiency, one may develop the following problems over time: […] Nerve damage […] Kidney malfunction […] Eyesight issues […] Increased risk of cardiovascular diseases.

• #47 Metabolic Disorders: Causes, Symptoms and Treatment – CritiCare Hospital

  https://www.criticarehospital.co.in/metabolic-disorders-causes-symptoms-and-treatment/

  Symptoms of metabolic disorders include fatigue, weight fluctuations, stomach ache, nausea, patchy colourless skin, lack of appetite, unexplained weight gain or loss, tiredness, muscle weakness, and infant development issues such as intellectual disabilities that may occur in babies. […] Muscle weakness is also a common symptom of metabolic disorders which reflect disruptions in energy production and nutrient utilisation by the body that is essential for muscle function. […] You should understand that metabolic disorders can also impact an individuals daily life. From the flow of your energy levels to your body weight, all these conditions influence essential bodily functions which can be disrupted due to metabolic disorders. […] In most of the inherited metabolic disorder conditions, the disorder cant be cured but it can be managed through personalised management. Doctors may suggest a diet plan which helps in decreasing metabolic disorder symptoms.

• #48 Metabolic Diseases | List | Causes | Treatment

  https://functionalmedsystem.com/en/metabolic-diseases/

  The episode may be related to an event (eg febrile infection, surgery) or after receiving certain foods (eg meat, fruit, milk). […] The keyword for clinical suspicion is unexplained, that is, symptoms happen without apparent cause. […] In general, clinical symptoms in infancy and childhood include developmental or neurological problems, mental retardation, epilepsy, and problems in several vital organs. Adults may experience hypotonia, myopathy, ataxia, thromboembolic events, etc. It would not be an exaggeration to say that metabolic diseases can affect any organ of the body at any age. […] Even when the child appears to develop naturally, it may start to lose its abilities, for example in speech or walking, and sometimes may change his features, becoming ineffective. These patients experience progressive worsening of the symptoms.

• #49 Inherited Metabolic Disorders | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/pediatrics/cancer-care/types/pediatric-blood-disorders/about-pediatric-blood-disorders/inherited-metabolic-disorders

  Inborn errors of metabolism are a diverse group of disorders caused by an inherited deficiency or defect in a single enzyme or protein. […] People with inborn errors of metabolism often develop nerve deterioration. These disorders may also impair the heart, vision, hearing, bone growth, lungs, and muscles. Children with these disorders may need multiple surgeries and restricted activities. They may also have growth problems and persistent discomfort. […] The only effective treatment for cALD is a stem cell transplant before the disease becomes too advanced. Early diagnosis and monitoring are therefore very important. […] Treatment is possible for juvenile and adult MLD. A stem cell transplant is the only known cure and should be done before the disease becomes too advanced. Early diagnosis and monitoring are therefore very important. […] Treatment with a stem cell transplant early in life is the only way to stop the disease from progressing. […] The MSK Kids team works together to diagnose these disorders and start treatment as early as possible.

• #50 Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” | Genetics in Medicine

  https://www.nature.com/articles/gim20116

  Biotinidase deficiency (OMIM# 253260 and 609019), the major cause of late-onset biotin-responsive multiple carboxylase deficiency, is an autosomal recessively inherited neurocutaneous disorder. The symptoms of the disorder can be successfully treated or prevented by administering pharmacological doses of biotin. […] Clinically, children with profound biotinidase deficiency, if untreated, usually exhibit one or more of the following symptoms: hypotonia; seizures; eczematous skin rash; alopecia; respiratory problems, such as hyperventilation, laryngeal stridor, and apnea; conjunctivitis, candidiasis; ataxia; developmental delay; hearing loss; and vision problems, such as optic atrophy. […] Symptoms of untreated profound biotinidase deficiency usually appear between the ages of 1 week and 10 years, with a mean age of 3.5 months.

• #51 Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” | Genetics in Medicine

  https://www.nature.com/articles/gim20116

  The most common neurologic features of individuals with untreated, profound biotinidase deficiency are seizures and hypotonia. […] Some untreated children have exhibited spinal cord disease characterized by progressive spastic paresis and myelopathy. […] Many symptomatic children with biotinidase deficiency exhibit a variety of central nervous system abnormalities on magnetic resonance imaging or computerized tomography of the brain. […] Sensorineural hearing loss and eye problems, such as optic atrophy, have also been described in untreated children. […] Approximately three-quarters of untreated symptomatic children with profound biotinidase deficiency have sensorineural hearing loss that usually does not resolve or improve but remains static with biotin treatment. […] Cutaneous symptoms include skin rash, alopecia, and recurrent viral or fungal infections caused by immunologic dysfunction.

• #52 Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” | Genetics in Medicine

  https://www.nature.com/articles/gim20116

  The biochemical abnormalities and seizures rapidly resolve after biotin treatment, followed by improvement of the cutaneous abnormalities. […] Optic atrophy and hearing loss may be irreversible with therapy, especially if a long period has elapsed between their onset and the initiation of treatment.

• #53 Overview of Hereditary Metabolic Disorders – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/overview-of-hereditary-metabolic-disorders

  Hereditary metabolic disorders develop when children inherit defective genes that control metabolism. […] Symptoms may provide clues as well. For example, children who have sweet-smelling urine may have maple syrup urine disease, or children who smell like sweaty feet may have isovaleric acidemia. Eye problems, an enlarged liver or spleen, heart problems (such as cardiomyopathy), or muscle weakness may indicate other hereditary metabolic disorders.

• #54 Citrullinemia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/citrullinemia/

  Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Affected individuals often have specific food preferences, preferring protein-rich and fatty foods and avoiding carbohydrate-rich foods. The signs and symptoms of this disorder typically appear during adulthood (adult-onset) and can be triggered by certain medications, infections, surgery, and alcohol intake. These signs and symptoms can be life-threatening in people with adult-onset type II citrullinemia. […] In many cases, the signs and symptoms of NICCD go away within a year. In rare cases, affected individuals develop other signs and symptoms in early childhood after seeming to recover from NICCD, including delayed growth, extreme tiredness (fatigue), specific food preferences (mentioned above), and abnormal amounts of fats (lipids) in the blood (dyslipidemia). This condition is known as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Years or even decades later, some people with NICCD or FTTDCD develop the features of adult-onset type II citrullinemia.

• #55 Metabolic Disorders – Premier Medical Group

  https://www.premiermedicalhv.com/divisions/services/metabolic-disorders/

  Symptoms of Gaucher Disease include extreme fatigue, yellow spots in the eyes, difficulty with eye movement, an enlarged spleen or liver, and lung issues. […] A patient’s outlook varies greatly once diagnosed with a metabolic disorder. Some cases are milder, while others will cause frequent, severe disruptions to daily life. Milder metabolic disorders can often be managed through a regulated diet, exercise, and some medication. More severe cases can cause patients to have lifelong pain, and can progress into severe organ damage, or death.

• #56 Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” | Genetics in Medicine

  https://www.nature.com/articles/gim20116

  Some children with profound biotinidase deficiency were asymptomatic until adolescence, when they developed sudden loss of vision with progressive optic neuropathy, scotomata, and spastic paraparesis. […] Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic, if not treated. […] Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening or because a previous child in the family was diagnosed with the disorder) and who are treated with biotin appear to have normal development. […] Neurological problems usually occur only in those individuals with biotinidase deficiency who have had recurrent symptoms and metabolic compromise prior to biotin treatment. […] All symptomatic children with biotinidase deficiency have improved after treatment with 5-10 mg of oral biotin per day; however, some of the features, such as developmental delay, optic atrophy, and hearing loss, are usually irreversible once they occur.

• #57 Inherited metabolic disorders – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/diagnosis-treatment/drc-20561225

  Some inherited metabolic disorders may be diagnosed before birth. Others can be diagnosed by routine newborn screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. Sometimes care begins with a stay in the hospital. For some types of inherited metabolic disorders, there are no treatments currently available. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #58 What are Inherited Metabolic Disorders – SIMMESN

  https://www.simmesn.it/en/italian-society/what-are-inherited-metabolic-disorders.html

  Inherited metabolic disorders, also known as inborn errors of metabolism, are a category of genetic diseases caused by the impaired function of specific metabolic pathways. […] The resulting clinical symptoms, which vary according to the specific metabolic defect, are due either to the toxicity of accumulated metabolites, the lack of an essential product that is not synthesised, or the deficit of energy. […] The intoxication mechanism can be either acute or chronic and progressively worsening. […] When it is acute, clinical manifestations are very severe and require intensive intervention. […] Metabolic disorders can manifest at any stage of life, from the foetal period to adulthood. However, it is more common to observe symptoms in childhood. […] The clinical onset can vary, depending on the type of metabolic defect, and may be acute (typically neonatal or triggered by an event) or delayed, resulting from the gradual accumulation of toxins over time.

• #59 Inborn Errors of Metabolism (IEM) – Inherited Metabolic Disorders

  https://my.clevelandclinic.org/health/diseases/17962-inherited-metabolic-disorders

  Symptoms of common inborn errors of metabolism include: […] The symptoms of inherited metabolic disorders vary depending on the condition. Symptoms range from mild to severe and can be life-threatening if left untreated. […] Inborn errors of metabolism can be harmful to your body if you’re unable to process certain food products in your metabolism. This could cause toxic substances to build up in your blood and cause: Seizures. Organ failure. Brain damage. […] Your outlook varies based on the severity of your symptoms. Some cases of IEM can be very dangerous if you have high levels of toxic material in your body that your body can’t get rid of on its own. Most people diagnosed with the condition have a normal lifespan with early detection and treatment, along with lifelong lifestyle changes.

• #60 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Many children with inherited metabolic diseases now survive to adulthood. […] These conditions are often life-limiting, multi-systemic and relentlessly progressive. […] This increase in survival age has meant people often develop chronic complications of their condition with increased morbidity. […] Urea cycle disorders result in high blood ammonia levels (by-products of protein metabolism), which cause encephalopathy, coma and death if untreated. […] Patients with these conditions lack a lysosomal enzyme, which results in accumulation of these products in multiple organs. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #61 Inherited Metabolic and Neurodegenerative Disorders – Clinical Tree

  https://clinicalpub.com/inherited-metabolic-and-neurodegenerative-disorders/

  The course is progressive, with death common by 2 years of age. […] The clinical course is progressive and typically includes mental retardation with signs of long tract dysfunction, such as pyramidal and cerebellar disturbances, with abnormal conduction of visual auditory and somatic sensory input as measured by evoked potentials. […] The disease predominantly involves the white matter of the cerebral hemispheres, cerebellum, and spinal cord. Pathologic changes include a marked toxic reduction in the number of oligodendrocytes.

• #62

  https://link.springer.com/article/10.1023/A:1005685010766

  Inborn errors of metabolism often present with a variety of psychiatric symptoms. […] Mental health concerns are among these issues. […] To demonstrate the connection between the course of metabolic disease and its psychiatric manifestations, four different inborn errors of metabolism are reviewed: phenylketonuria, Wilson disease, acute intermittent porphyria, and metachromatic leukodystrophy.

• #63 About Inherited Metabolic Diseases – Cardiff and Vale University Health Board

  https://cavuhb.nhs.wales/our-services/all-wales-adult-inherited-metabolic-disease-service/information-for-patients/about-inherited-metabolic-diseases/

  Inherited metabolic disorders are rare genetic conditions that interfere with metabolism. […] Most people with an inherited metabolic disorder have a defective gene that causes an enzyme deficiency. This means that abnormal chemical reactions in the body alter some of the normal metabolic processes. This can affect the building of vital materials, brain function, energy production and removal of waste and toxins. […] Others are identified only after a child or adult shows symptoms of a disorder. An increasing number of paediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the availability of advanced diagnostic techniques. […] Living with a rare condition can have a large impact on a person’s life, including their emotional and psychological health and social and financial situation.

• #64 Inherited Metabolic Disorders Program | Children’s National Hospital

  https://www.childrensnational.org/get-care/departments/inherited-metabolic-disorders-program

  Inherited metabolic disorders are rare among the general population and may often be misdiagnosed, as symptoms often mirror those associated with other conditions. […] If left untreated, some disorders can cause intellectual disability and/or lead to death. Early treatment improves outcomes dramatically. […] Inherited metabolic disorders are rare among the general population and may be misdiagnosed, as symptoms often mirror those associated with other conditions. The Inherited Metabolic Disorders Program provides diagnostic testing, evaluation and management for children with the following inborn errors of metabolism. […] There are currently no cures for inherited metabolic disorders, and many of these conditions are associated with frequent hospitalizations and long-term intellectual disability.

• #65 What are inherited metabolic disorders — Inherited metabolic disorder specialist in Costa del Sol

  https://www.marbellahospital.com/news-inherited-metabolic-disorder-specialist-in-costa-del-sol

  Symptoms, treatments, and prognoses for genetic metabolic disorders vary widely. […] In the event that an inherited metabolic disorder is not detected at birth, the condition is frequently not diagnosed until the symptoms manifest. […] Currently, there are only a few treatments available for inherited metabolic disorders.

• #66 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Many inherited metabolic disorders can be found during pregnancy, which enables you to plan your baby’s care before delivery and know what your baby will need after they are born. […] Within 48 hours of birth, all babies are screened for 40 inborn errors of metabolism genetic defects that interfere with their ability to process substances like carbohydrates, proteins, and fats. […] We recognize that every patient with a metabolic disorder has a unique combination of symptoms, circumstances, and needs. […] Children who have a lifelong need for specialized care, such as those with inherited metabolic disorders, are embraced by our care teams. […] If your child has a diagnosis of a metabolic disorder, our multidisciplinary team of specialists provide treatment specific to each patient’s metabolic condition.

• #67 Metabolic Disorders – CENTOGENE

  https://www.centogene.com/diagnostics/our-tests/ngs-panels/metabolic-disorders

  Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders. […] Inborn Errors of Metabolism (IEM) largely impact human diseases. […] CentoIEM is a metabolic and liver disease gene panel that screens for an array of different disorders and contains genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, mental disorders, and porphyrias, among others. […] Whole Exome Sequencing (WES) enables quicker and cost-effective diagnosis for patients with complex and unclear symptoms. […] Multiomics give a deeper understanding of human biological processes and acts as a unique and highly effective tool for early diagnosis.

• #68 Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening—Insights from Emilia-Romagna (Italy)

  https://www.mdpi.com/2227-9067/12/4/464

  In our experience, the incidence of early neonatal acute metabolic decompensation is about 1.58 cases per 100,000 infants over 11 years, a much lower value compared to the incidence of diagnosed hereditary metabolic disorders. […] Although the latest advances point toward the increasing implementation of genetic newborn screening, a multidisciplinary approach—involving neonatologists, metabolic specialists, and genetic counselors—is essential from the very first hours of patient management, and the centralization of cases is fundamental for implementing the most effective therapeutic protocols and optimizing outcomes.

• #69 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Symptoms of inherited metabolic disorders vary widely and can range from very mild to life-threatening. […] Enzyme replacement therapy is not curative but can ameliorate symptoms or slow the progression of the disease. […] Hematopoietic stem cell transplantation can be performed for a small number of inborn errors of metabolism to prevent or slow-down the development of symptoms. Outcomes tend to depend on the clinical stage of the disease and in some instances, it can be recommended before symptoms start.

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