Materiały źródłowe

• #1 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Phenylketonuria (PKU), less commonly known as phenylalanine hydroxylase (PAH) deficiency, is the most common inborn error of amino acid metabolism, arising from bi-allelic pathogenic variants in the gene that encodes PAH. A deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine into tyrosine in the proximal step of the metabolic pathway. This leads to accumulation of phenylalanine in body fluids, and decreased tyrosine. In plasma, normal phenylalanine level is less than 120 umol/L (2 mg/dL), and in untreated patients with PKU, levels can be significantly above this threshold, often above 1000 umol/L. […] Persistently elevated phenylalanine levels lead to profound and irreversible intellectual disability; other disease manifestations across the lifespan in an untreated individual may include epilepsy, eczema, musty body odor, behavioral issues, decreased skin and hair pigmentation, and Parkinson-like features. It is also worth noting that elevated Phe levels are teratogenic. With appropriate treatment and careful protein restriction from early infancy, individuals with PKU develop typical intellectual functioning.

• #2 Overview of phenylketonuria – UpToDate

  https://www.uptodate.com/contents/overview-of-phenylketonuria

  Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms. […] Complete enzyme deficiency results in classic PKU, in which serum phenylalanine plasma concentrations in an untreated, newly diagnosed newborn infant exceed 20 mg/dL (1200 micromol/L). Residual enzyme activity causes moderate PKU (phenylalanine concentrations 900 to 1200 micromol/L), mild PKU (phenylalanine concentrations 600 to 900 micromol/L), mild hyperphenylalaninemia (HPA; phenylalanine concentrations 360 to 600 micromol/L), and benign mild HPA that typically does not require treatment (phenylalanine concentrations 120 to 360 micromol/L).

• #3 Overview of phenylketonuria – UpToDate

  https://www.uptodate.com/contents/overview-of-phenylketonuria

  Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms. […] Complete enzyme deficiency results in classic PKU, in which serum phenylalanine plasma concentrations in an untreated, newly diagnosed newborn infant exceed 20 mg/dL (1200 micromol/L). Residual enzyme activity causes moderate PKU (phenylalanine concentrations 900 to 1200 micromol/L), mild PKU (phenylalanine concentrations 600 to 900 micromol/L), mild hyperphenylalaninemia (HPA; phenylalanine concentrations 360 to 600 micromol/L), and benign mild HPA that typically does not require treatment (phenylalanine concentrations 120 to 360 micromol/L).

• #4 Phenylketonuria: MedlinePlus GeneticsLock

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

  Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. […] The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. […] Babies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. They may also have heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.

• #5 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Newborns with PKU initially don’t have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. […] Signs and symptoms of untreated PKU can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body, Nervous system (neurological) problems that may include seizures, Skin rashes, such as eczema, Lighter skin, hair and eye color than family members, because phenylalanine can’t transform into melanin the pigment responsible for hair and skin tone, Unusually small head size (microcephaly), Hyperactivity, Intellectual disability, Delayed development, Behavioral, emotional and social problems, Mental health disorders. […] The severity of PKU depends on the type. […] Regardless of the form, most infants, children and adults with the disorder still require a special PKU diet to prevent intellectual disability and other complications.

• #6 What are common symptoms of phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/symptoms

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Other symptoms include: […] Behavioral or social problems […] Seizures, shaking, or jerking movements in the arms and legs […] Stunted or slow growth […] Skin rashes, like eczema […] Small head size, called microcephaly […] A musty odor in urine, breath, or skin that is a result of the extra phenylalanine in the body […] Fair skin and blue eyes, due to the body’s failure to transform phenylalanine into melanin, the pigment responsible for a person’s coloring.

• #7 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities (IDDs). Adults with PKU who do not follow a special diet may develop unstable moods and take longer to process information. Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight.

• #8 PKU (Phenylketonuria) in your baby | March of Dimes

  https://www.marchofdimes.org/find-support/topics/birth/pku-phenylketonuria-your-baby

  Babies who have PKU seem normal for the first few months of life. But without treatment, they begin to show signs and symptoms of the illness at about 6 months of age. These include: […] Jerky movements in the arms and legs […] Lighter skin and eyes (Babies who have PKU cant properly make melanin, the pigment in the body thats responsible for skin and hair color.) […] Musty body smell […] Seizures […] Skin rashes […] Small head size […] Taking longer than expected to sit, crawl or walk […] Losing interest in surroundings […] Delays in mental and social skills […] Intellectual disabilities […] Behavior problems, such as being hyperactive.

• #9 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=160&contentid=58

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] If a baby is not tested and has undiagnosed PKU, they may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, and seizures. […] Symptoms can range from mild to severe based on how much phenylalanine is in the blood. […] If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays. Heart defects, especially in infants born to mothers with PKU, and uncontrolled phenylalanine in pregnancy. Autism. Intellectual disability. Very small head size (microcephaly). Behavioral problems. Seizures. Eczema (a skin condition marked by an itchy red rash or blisters). Delayed physical growth.

• #10 Phenylketonuria Program (PKU) – Children’s Hospital of Orange County

  https://choc.org/programs-services/metabolic-disorders/phenylketonuria-pku-program/

  CHOC offers a dedicated and multidisciplinary program to diagnose and treat children with phenylketonuria (PKU), an inherited disease in which the body cannot metabolize a protein called phenylalanine. […] In the U.S., all newborns are tested for PKU and placed on a special formula as soon as possible. It is unusual, therefore, for babies to develop symptoms of the disease. But if a baby isn’t tested and has undiagnosed PKU, the child won’t show any signs or symptoms until he or she is several months old. Sometimes babies with PKU may seem more drowsy and listless than normal, and they may have feeding difficulties. As they continue to take in protein (and phenylalanine) through their diets, they may show other symptoms. […] If PKU is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that are toxic to brain tissue. It can cause permanent damage to organs and tissues throughout the body.

• #11 Signs & Symptoms Of Phenylketonuria (PKU)

  https://specialolympicsarizona.org/symptoms-of-phenylketonuria/

  Mild symptoms of PKU for individuals who are not being treated or are not regulating their diet include: Eczema. Discoloration of the skin or hair, especially when compared to their family members. A small head size, or microcephaly. A musty odor present in their breath, skin, or urine. […] More severe symptoms of untreated PKU include: Behavioral problems. Developmental delays. Intellectual disabilities. Seizures. […] The severity of PKU will affect the severity of symptoms, and individuals with mild cases of phenylketonuria are much less likely to develop symptoms such as intellectual disability, even when leaving PKU untreated. […] Babies with PKU will generally seem normal and healthy for the first few months of life, but once they reach about six months old without treatment, they will begin exhibiting symptoms of PKU and will need to begin treatments, including diet regulation. These early symptoms of PKU that are common in infants around 6 months old include: Jerky movements of the arms and legs. A musty body smell. Lighter skin in the eyes due to the inability to properly make melanin in babies with PKU. Seizures. Frequent rashes on the skin, including eczema. A smaller than average head size. Taking longer to reach physical milestones, such as sitting, crawling, or walking. Losing interest in their surroundings. Delays in reaching mental and social skill milestones. Intellectual disabilities. Behavior problems, especially hyperactivity.

• #12 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU often do not have any signs or symptoms at birth. However, by 6 months to one year of age, most children with the disorder will begin to show some developmental delays. […] As the disease progresses, PKU can lead to: […] Severe intellectual disability […] Delayed mental and social skills […] Behavior problems like hyperactivity […] Seizures, tremors and/or jerking movements […] A small head size (microcephaly) […] Other symptoms of the disorder can include: […] Changes in brain development due to how white matter develops. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #13 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=160&contentid=58

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] If a baby is not tested and has undiagnosed PKU, they may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, and seizures. […] Symptoms can range from mild to severe based on how much phenylalanine is in the blood. […] If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays. Heart defects, especially in infants born to mothers with PKU, and uncontrolled phenylalanine in pregnancy. Autism. Intellectual disability. Very small head size (microcephaly). Behavioral problems. Seizures. Eczema (a skin condition marked by an itchy red rash or blisters). Delayed physical growth.

• #14 Phenylketonuria (PKU) in Children | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/p/phenylketonuria-pku-in-children.html

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] If a baby is not tested and has undiagnosed PKU, they may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, seizures as well as other problems. Symptoms can range from mild to severe based on how much phenylalanine is in the blood. […] If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays, Heart defects, especially in infants born to mothers with PKU and uncontrolled phenylalanine in pregnancy, Autism, Intellectual disability, Very small head size (microcephaly), Behavioral problems, Seizures, Eczema (a skin condition marked by an itchy red rash or blisters), Pale hair and skin compared with other family members, Delayed physical growth, Musty body odor. […] Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. If they don’t, they may have mood disorders, poor memory and problem-solving skills, depression, and uncontrollable shaking (tremors).

• #15 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Untreated PKU can lead to complications in infants, children and adults with the disorder. When women with PKU have high blood phenylalanine levels during pregnancy, it can harm their unborn baby. […] Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life, Neurological problems such as seizures and tremors, Behavioral, emotional and social problems in older children and adults, Major health and developmental problems.

• #16 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Other manifestations of untreated PKU are as follows: Intellectual disability (the most common finding overall), Musty or mousy odor, Epilepsy, Extrapyramidal manifestations (eg, parkinsonism), Progressive white matter disease on brain MRI, Mood disorder. […] Early initiation of treatment for phenylketonuria (PKU) in the first few days of life is critical in preventing the severe manifestations of the disease. While a strict low-phenylalanine diet can help manage symptoms, mild cognitive deficits and mental health issues may still arise even with good dietary control. If treatment is not started until after 2 to 3 years of age, it may only effectively control extreme hyperactivity and seizures, with limited impact on cognitive outcomes. Children born to mothers with poorly controlled PKU during pregnancy are at high risk of microcephaly and developmental deficits in utero.

• #17 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Phenylketonuria (PKU), less commonly known as phenylalanine hydroxylase (PAH) deficiency, is the most common inborn error of amino acid metabolism, arising from bi-allelic pathogenic variants in the gene that encodes PAH. A deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine into tyrosine in the proximal step of the metabolic pathway. This leads to accumulation of phenylalanine in body fluids, and decreased tyrosine. In plasma, normal phenylalanine level is less than 120 umol/L (2 mg/dL), and in untreated patients with PKU, levels can be significantly above this threshold, often above 1000 umol/L. […] Persistently elevated phenylalanine levels lead to profound and irreversible intellectual disability; other disease manifestations across the lifespan in an untreated individual may include epilepsy, eczema, musty body odor, behavioral issues, decreased skin and hair pigmentation, and Parkinson-like features. It is also worth noting that elevated Phe levels are teratogenic. With appropriate treatment and careful protein restriction from early infancy, individuals with PKU develop typical intellectual functioning.

• #18 Phenylketonuria (PKU) in Children | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/p/phenylketonuria-pku-in-children.html

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] If a baby is not tested and has undiagnosed PKU, they may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, seizures as well as other problems. Symptoms can range from mild to severe based on how much phenylalanine is in the blood. […] If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays, Heart defects, especially in infants born to mothers with PKU and uncontrolled phenylalanine in pregnancy, Autism, Intellectual disability, Very small head size (microcephaly), Behavioral problems, Seizures, Eczema (a skin condition marked by an itchy red rash or blisters), Pale hair and skin compared with other family members, Delayed physical growth, Musty body odor. […] Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. If they don’t, they may have mood disorders, poor memory and problem-solving skills, depression, and uncontrollable shaking (tremors).

• #19 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities (IDDs). Adults with PKU who do not follow a special diet may develop unstable moods and take longer to process information. Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight.

• #20

  https://omim.org/entry/261600

  Evidence of heterogeneity in phenylketonuria was presented by Auerbach et al. (1967) and by Woolf et al. (1968). […] Burgard et al. (1996) found that all patients but one who had predicted in vitro residual enzyme activity greater than 20% had mild PKU, while those with predicted in vitro residual enzyme activity less than 20% were identified as having classical PKU. […] Mildly depressed IQ is common in treated PKU. Griffiths et al. (2000) analyzed IQ scores collected from 57 British children with early-treated classic PKU using variants of the Wechsler intelligence scale for children (WISC) in relation to indicators of dietary control such as serum phenylalanine levels and socioeconomic factors. […] In a retrospective study from birth in 13 patients with classic PKU, Barat et al. (2002) found greater variation of phenylalanine levels and a higher mean of cumulative variations in the 8 osteopenic patients than in 5 nonosteopenic patients. […] Brumm et al. (2010) reviewed studies of psychiatric symptoms and disorders in patients with PKU. Those with untreated PKU tended to have severe behavioral disturbances, including psychotic disorders, autistic features, hyperactivity, and aggression, as well as self-mutilation.

• #21 Phenylketonuria (PKU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

  Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. If this condition isn’t treated, buildup of phenylalanine in your body causes symptoms including challenges with cognitive development (intellectual disability). […] Symptoms of untreated PKU include: Eczema. Skin and/or hair discoloration (lighter compared to other members of their family). Small head size (microcephaly). A musty odor to their breath, skin or urine. […] Severe symptoms of untreated PKU include: Behavioral problems. Developmental delays. Intellectual disabilities. Seizures (rare). […] Children and adults with mild hyperphenylalaninemia are at a much lower risk for intellectual disabilities in the absence of treatment. […] Phenylketonuria (PKU) is a lifelong condition and most people living with it lead healthy lives. After diagnosis, regular blood tests to monitor the level of phenylalanine in your blood are necessary. […] If you are on a restricted diet, you still need to eat foods and take vitamins to make up for the lack of protein in your diet. Make sure you follow your diet for your entire life to prevent symptoms that could be dangerous to your health.

• #22 What are common symptoms of phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/symptoms

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Other symptoms include: […] Behavioral or social problems […] Seizures, shaking, or jerking movements in the arms and legs […] Stunted or slow growth […] Skin rashes, like eczema […] Small head size, called microcephaly […] A musty odor in urine, breath, or skin that is a result of the extra phenylalanine in the body […] Fair skin and blue eyes, due to the body’s failure to transform phenylalanine into melanin, the pigment responsible for a person’s coloring.

• #23 Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

  https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00398-9

  If PKU is untreated, patients can experience severe intellectual disability, epilepsy, seizures, psychiatric movement behaviors, microcephaly, generalized hypopigmentation of skin (including eyes and hair), eczema, and a musty sweat odor. […] Late diagnosed or untreated PKU may be due to newborn screening failures and is most common in countries without newborn screening protocols or treatment. […] If treatment is not adequate, clinical signs can include lower extremity spasticity and cerebellar ataxia, tremor, encephalopathy, and visual abnormalities. […] Some cases may not be diagnosed until adulthood, presenting with mild-to-moderate neurological complications related to PKU. […] Since brain damage is one of the greatest risks for PKU patients, early detection and assessment of neural activity are important for patient health. […] However, treatment helps prevent major neurological deficits, cognitive abnormalities, and specific learning disabilities immediately after birth.

• #24 What Is Phenylketonuria (PKU)? Symptoms, Diet & Treatment

  https://www.emedicinehealth.com/what_is_pku_and_how_is_it_treated/article_em.htm

  If untreated, PKU can result in irreversible intellectual disability. […] Early diagnosis and the correct treatment including a properly maintained diet may prevent intellectual disability as well as neurological, behavioral, and dermatological problems. […] When treatment is started early, PKU (phenylketonuria) may not cause any symptoms. If left untreated, PKU can cause damage to the brain and nervous system. […] Symptoms in untreated newborns not diagnosed in the first days of life may include: Weakness, Poor feeding, Vomiting, Irritability, Red skin rash with small pimples. […] If PKU remains undiagnosed and untreated, symptoms may include: Learning disabilities, Behavioral problems such as frequent temper tantrums and episodes of self-harm, Eczema, Frequent illness, Jerking movements in arms and legs, Abnormal muscle movements, Tight muscles, Increased reflexes, Involuntary movements, Tremors, Seizures, Depression, Musty smell to breath, skin, and urine, Fairer skin, hair, and eyes than siblings who do not have the condition.

• #25 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=160&contentid=58

  Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU cant process an amino acid called phenylalanine. […] If a baby is not tested and has undiagnosed PKU, they may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, and seizures. […] Symptoms can range from mild to severe based on how much phenylalanine is in the blood. […] If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays. Heart defects, especially in infants born to mothers with PKU, and uncontrolled phenylalanine in pregnancy. Autism. Intellectual disability. Very small head size (microcephaly). Behavioral problems. Seizures. Eczema (a skin condition marked by an itchy red rash or blisters). Delayed physical growth.

• #26 Phenylketonuria (PKU): Causes, Symptoms, Diagnosis, and Treatment • Yesil Health

  https://yesilhealth.com/your-health/phenylketonuria-pku-causes-symptoms-diagnosis-and-treatment/

  In addition to neurological complications, PKU individuals may experience: Skin problems: PKU can cause skin issues, such as eczema, rashes, and skin lesions. Bone problems: Weakened bones (osteopenia) and osteoporosis are common in individuals with PKU. Cardiovascular issues: PKU individuals may be at a higher risk of cardiovascular disease, including high blood pressure and heart failure.

• #27

  https://link.springer.com/article/10.1007/s12325-021-01986-2

  The physical health theme includes headaches, difficulties with sleeping, skin problems, gastrointestinal issues, joint pain, sight problems, bad body odor, frequent hunger, slow healing of wounds, problems with taking medication, feeling sluggish, tremors, and tinnitus. […] Participants reported multiple HRQoL impacts including on social function, physical health, emotions, and level of independence. […] The analysis of the refined conceptual model revealed that some neuropsychological and physical health concepts that were relevant for patients with PKU were not covered in the instrument, such as headaches, tremors, skin problems, short-term memory, insomnia, and thinking clearly and remembering. […] Overall participants responses to the items included in the instrument were equally distributed among the available response options. No indication of floor or ceiling effects was observed for any of the items in the instrument.

• #28 Phenylketonuria | healthdirect

  https://www.healthdirect.gov.au/phenylketonuria

  Phenylketonuria (PKU) is a rare genetic disorder where your body can’t break down some proteins in food. If you have PKU, having a regular diet containing protein will cause damage to your brain. […] Newborns with PKU rarely have symptoms right away. Sometimes they may be sleepy or eat poorly. […] If not treated, phenylalanine builds up in their blood over time. This can lead to complications. Symptoms of the build-up of phenylalanine may include: hyperactivity and seizures, nausea and vomiting, lighter skin, hair, and eyes than family members, eczema-like rashes, aggressive or self-harming behaviour, emotional disturbances including anxiety, a musty odour in sweat or urine. […] In some cases, the build-up can lead to mental health problems. […] Early diagnosis and treatment help babies grow and develop normally like other healthy children.

• #29 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU often do not have any signs or symptoms at birth. However, by 6 months to one year of age, most children with the disorder will begin to show some developmental delays. […] As the disease progresses, PKU can lead to: […] Severe intellectual disability […] Delayed mental and social skills […] Behavior problems like hyperactivity […] Seizures, tremors and/or jerking movements […] A small head size (microcephaly) […] Other symptoms of the disorder can include: […] Changes in brain development due to how white matter develops. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #30 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability. […] If not treated during infancy and childhood, PKU can cause developmental delay and intellectual disability. However, children who start PKU treatment as newborns and continue through childhood are expected to have normal growth and development. […] Those who stop treatment later in childhood or as adults may develop cognitive and mental health symptoms, including attention deficits, mood-related issues, poor self-control, reduced ability to plan and prioritize tasks, and brain “fog.” However, these symptoms can be at least partly reversed by going back on treatment.

• #31 PKU Basics | KUVAN

  https://www.kuvan.com/pku-basics/

  Symptoms of PKU can range from mild to severe and are the result of high or unstable blood Phe levels. […] In children, symptoms may include: Being cranky or fretful, Inability to focus, Anxiety, Severe intellectual disability (if left untreated). […] In adults, symptoms may include: Headache, Forgetfulness, Fatigue, Trouble focusing, Depression, Anxiety, Irritability, Isolation, Feeling foggy.

• #32 Reddit – The heart of the internet

  https://www.reddit.com/r/phenylketonuria/comments/t5wllw/question_to_pku_adults/

  I thought about it for a while back then but eventually stopped thinking about it and forgot about it – until today – when I was driving home from work. […] Occasionally I get quite dizzy or loopy and my head feels all foggy and I was questioning why TF this happens to me every so often and why I feel this weird sensation in my head that feels like everything is bubbling up in there. […] What symptoms or experiences do you have with PKU when you are over your limit or actively experiencing high Phenylalanine levels? […] It feels like brain cells are evaporating but I could just be making that up.

• #33 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage. […] Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. […] Other symptoms of untreated PKU include: behavioural difficulties such as frequent temper tantrums and episodes of self-harm, fairer skin, hair and eyes than siblings who do not have the condition, eczema, repeatably being sick, jerking movements in arms and legs, tremors, epilepsy, musty smell to the breath, skin and urine. […] As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they’ll remain well and their brain function should be unaffected. […] Unlike in young children, there is not yet any evidence that high phenylalanine levels cause any permanent brain damage in adults with PKU.

• #34 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability. […] If not treated during infancy and childhood, PKU can cause developmental delay and intellectual disability. However, children who start PKU treatment as newborns and continue through childhood are expected to have normal growth and development. […] Those who stop treatment later in childhood or as adults may develop cognitive and mental health symptoms, including attention deficits, mood-related issues, poor self-control, reduced ability to plan and prioritize tasks, and brain “fog.” However, these symptoms can be at least partly reversed by going back on treatment.

• #35 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities (IDDs). Adults with PKU who do not follow a special diet may develop unstable moods and take longer to process information. Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight.

• #36 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  Some adults with PKU may have higher phenylalanine levels because they find it difficult to follow the low-protein diet or have returned to a normal diet. […] For women with PKU, it’s essential that they return to a strict diet if they’re considering becoming pregnant, as high phenylalanine levels can harm an unborn child. […] Women with PKU must take particular care during pregnancy, as high levels of phenylalanine can damage their unborn baby.

• #37 Phenylketonuria: MedlinePlus GeneticsLock

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

  Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. […] The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. […] Babies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. They may also have heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.

• #38 Phenylketonuria | healthdirect

  https://www.healthdirect.gov.au/phenylketonuria

  If not diagnosed and treated early, high levels of phenylalanine in the blood from PKU can cause developmental delays in the first year of life. This can lead to neurological complications such as intellectual disability, poor coordination, severe brain damage. […] Even with good dietary control, some children still may develop mild mental health problems. They may also have difficulties in school. […] Children born to mothers with high phenylalanine levels during pregnancy are at risk of having a small head (microcephaly). They may also develop developmental problems. This is known as maternal PKU.

• #39 Phenylketonuria: Symptoms, tests, and treatment

  https://www.medicalnewstoday.com/articles/317963

  If a pregnant woman has PKU that is not under control, her fetus will be exposed to higher than normal levels of phenylalanine in the womb. This can put the unborn child at risk for the following conditions: low birth weights, intellectual disability, delayed growth, heart complications, small head size, behavioral problems. […] Classic PKU is most worrisome as this form can lead to severe brain damage and other medical conditions if it is not treated.

• #40 Phenylketonuria: What Is It?

  https://www.webmd.com/digestive-disorders/phenylketonuria-overview

  PKU can come with mild symptoms or more serious ones. […] The most severe form of the disorder is called classic PKU. It happens when you have little or none of the enzyme that helps process Phe and there is too much Phe in your blood. Symptoms of untreated classic PKU include: IQ loss, Delayed mental and physical development, Seizures, Emotional problems, Memory loss, Heart defects, A skin rash called eczema, A musty odor in your breath, skin, or urine. […] In milder forms of PKU, your Phe levels are lower and theres less chance of serious harm to the brain. Some people have a very slight case of PKU that might not cause problems or need treatment. […] If youre a mom-to-be with the disorder, its important to keep your Phe levels in a safe range (2% to 6%). High levels of it in the womb can cause your child to have: Low birth weight, Slowed growth, Behavior problems, Heart trouble. […] If you go off the diet, you may have some memory loss, trouble concentrating, or you might feel anxious or depressed. If you stick with or go back on the diet, your mind will be sharper and youll feel better.

• #41 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=160&contentid=58

  Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. If they don’t, they may have mood disorders, poor memory and problem-solving skills, depression, and uncontrollable shaking (tremors). […] If PKU is untreated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage and other serious problems.

• #42 Phenylketonuria (PKU) – Health Information Library | PeaceHealth

  https://www.peacehealth.org/medical-topics/id/hw44745

  If PKU is not found and treated soon after birth, symptoms usually start to appear within a few months after birth. (It takes time for the phenylalanine to build up in the baby’s body.) […] Early symptoms of PKU in a baby may include: […] Without early treatment, the child may have growth problems, developmental delays, seizures, and severe intellectual disability. […] You’ll need regular blood tests to check your phenylalanine level. If the level builds up, it can affect your IQ and your ability to learn, think, and understand. […] Babies born to people who have high levels of phenylalanine are at risk for having a very small head, intellectual disability, growth problems, and heart problems.

• #43 Phenylketonuria (PKU) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

  Newborns with PKU initially don’t have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. […] Signs and symptoms of untreated PKU can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body, Nervous system (neurological) problems that may include seizures, Skin rashes, such as eczema, Lighter skin, hair and eye color than family members, because phenylalanine can’t transform into melanin the pigment responsible for hair and skin tone, Unusually small head size (microcephaly), Hyperactivity, Intellectual disability, Delayed development, Behavioral, emotional and social problems, Mental health disorders. […] The severity of PKU depends on the type. […] Regardless of the form, most infants, children and adults with the disorder still require a special PKU diet to prevent intellectual disability and other complications.

• #44 Signs & Symptoms Of Phenylketonuria (PKU)

  https://specialolympicsarizona.org/symptoms-of-phenylketonuria/

  Signs & Symptoms of Phenylketonuria (PKU) Phenylketonuria, also known as PKU, is a rare genetic disorder that causes the amino acid phenylalanine to build up in the body. Without treatment, this buildup of phenylalanine can cause a number of symptoms, from cognitive impairment to intellectual disability. […] The severity of the symptoms of phenylketonuria depends on the type of PKY that an individual has. There are two types of PKU: classic PKU and other less severe forms of PKU. Individuals with classic PKU will generally have more severe symptoms due to the enzyme needed to break down phenylalanine either missing completely or being greatly reduced. This results in high levels of the amino acid and potential severe brain damage. […] Symptoms of PKU will generally only affect individuals who are not treated or are not properly regulating their diet, and symptoms include:

• #45 About Phenylketonuria

  https://www.genome.gov/Genetic-Disorders/Phenylketonuria

  Symptoms of PKU range from mild to severe. Severe PKU is called classic PKU. Infants born with classic PKU appear normal for the first few months after birth. However, without treatment with a low-phenylalanine diet, these infants will develop mental disability and behavioral problems. Other common symptoms of untreated classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have eczema of the skin and lighter skin and hair than their family members who do not have PKU. […] Babies born with less severe forms of PKU (moderate or mild PKU) may have a milder degree of mental disability unless treated with the special diet. If the baby has only a very slight degree of PKU, often called mild hyperphenylalaninemia, there may be no problems and the special dietary treatment may not be needed.

• #46

  https://omim.org/entry/261600

  Evidence of heterogeneity in phenylketonuria was presented by Auerbach et al. (1967) and by Woolf et al. (1968). […] Burgard et al. (1996) found that all patients but one who had predicted in vitro residual enzyme activity greater than 20% had mild PKU, while those with predicted in vitro residual enzyme activity less than 20% were identified as having classical PKU. […] Mildly depressed IQ is common in treated PKU. Griffiths et al. (2000) analyzed IQ scores collected from 57 British children with early-treated classic PKU using variants of the Wechsler intelligence scale for children (WISC) in relation to indicators of dietary control such as serum phenylalanine levels and socioeconomic factors. […] In a retrospective study from birth in 13 patients with classic PKU, Barat et al. (2002) found greater variation of phenylalanine levels and a higher mean of cumulative variations in the 8 osteopenic patients than in 5 nonosteopenic patients. […] Brumm et al. (2010) reviewed studies of psychiatric symptoms and disorders in patients with PKU. Those with untreated PKU tended to have severe behavioral disturbances, including psychotic disorders, autistic features, hyperactivity, and aggression, as well as self-mutilation.

• #47 Overview of phenylketonuria – UpToDate

  https://www.uptodate.com/contents/overview-of-phenylketonuria

  Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms. […] Complete enzyme deficiency results in classic PKU, in which serum phenylalanine plasma concentrations in an untreated, newly diagnosed newborn infant exceed 20 mg/dL (1200 micromol/L). Residual enzyme activity causes moderate PKU (phenylalanine concentrations 900 to 1200 micromol/L), mild PKU (phenylalanine concentrations 600 to 900 micromol/L), mild hyperphenylalaninemia (HPA; phenylalanine concentrations 360 to 600 micromol/L), and benign mild HPA that typically does not require treatment (phenylalanine concentrations 120 to 360 micromol/L).

• #48

  https://omim.org/entry/261600

  Evidence of heterogeneity in phenylketonuria was presented by Auerbach et al. (1967) and by Woolf et al. (1968). […] Burgard et al. (1996) found that all patients but one who had predicted in vitro residual enzyme activity greater than 20% had mild PKU, while those with predicted in vitro residual enzyme activity less than 20% were identified as having classical PKU. […] Mildly depressed IQ is common in treated PKU. Griffiths et al. (2000) analyzed IQ scores collected from 57 British children with early-treated classic PKU using variants of the Wechsler intelligence scale for children (WISC) in relation to indicators of dietary control such as serum phenylalanine levels and socioeconomic factors. […] In a retrospective study from birth in 13 patients with classic PKU, Barat et al. (2002) found greater variation of phenylalanine levels and a higher mean of cumulative variations in the 8 osteopenic patients than in 5 nonosteopenic patients. […] Brumm et al. (2010) reviewed studies of psychiatric symptoms and disorders in patients with PKU. Those with untreated PKU tended to have severe behavioral disturbances, including psychotic disorders, autistic features, hyperactivity, and aggression, as well as self-mutilation.

• #49 Phenylketonuria (PKU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

  Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. If this condition isn’t treated, buildup of phenylalanine in your body causes symptoms including challenges with cognitive development (intellectual disability). […] Symptoms of untreated PKU include: Eczema. Skin and/or hair discoloration (lighter compared to other members of their family). Small head size (microcephaly). A musty odor to their breath, skin or urine. […] Severe symptoms of untreated PKU include: Behavioral problems. Developmental delays. Intellectual disabilities. Seizures (rare). […] Children and adults with mild hyperphenylalaninemia are at a much lower risk for intellectual disabilities in the absence of treatment. […] Phenylketonuria (PKU) is a lifelong condition and most people living with it lead healthy lives. After diagnosis, regular blood tests to monitor the level of phenylalanine in your blood are necessary. […] If you are on a restricted diet, you still need to eat foods and take vitamins to make up for the lack of protein in your diet. Make sure you follow your diet for your entire life to prevent symptoms that could be dangerous to your health.

• #50 Signs & Symptoms Of Phenylketonuria (PKU)

  https://specialolympicsarizona.org/symptoms-of-phenylketonuria/

  Signs & Symptoms of Phenylketonuria (PKU) Phenylketonuria, also known as PKU, is a rare genetic disorder that causes the amino acid phenylalanine to build up in the body. Without treatment, this buildup of phenylalanine can cause a number of symptoms, from cognitive impairment to intellectual disability. […] The severity of the symptoms of phenylketonuria depends on the type of PKY that an individual has. There are two types of PKU: classic PKU and other less severe forms of PKU. Individuals with classic PKU will generally have more severe symptoms due to the enzyme needed to break down phenylalanine either missing completely or being greatly reduced. This results in high levels of the amino acid and potential severe brain damage. […] Symptoms of PKU will generally only affect individuals who are not treated or are not properly regulating their diet, and symptoms include:

• #51 Overview of phenylketonuria – UpToDate

  https://www.uptodate.com/contents/overview-of-phenylketonuria

  Phenylketonuria (PKU; MIM #261600) is a disorder affecting the aromatic amino acid, phenylalanine. It results from a deficiency of phenylalanine hydroxylase (PAH) and, if untreated, results in irreversible intellectual disability among other clinical symptoms. […] Complete enzyme deficiency results in classic PKU, in which serum phenylalanine plasma concentrations in an untreated, newly diagnosed newborn infant exceed 20 mg/dL (1200 micromol/L). Residual enzyme activity causes moderate PKU (phenylalanine concentrations 900 to 1200 micromol/L), mild PKU (phenylalanine concentrations 600 to 900 micromol/L), mild hyperphenylalaninemia (HPA; phenylalanine concentrations 360 to 600 micromol/L), and benign mild HPA that typically does not require treatment (phenylalanine concentrations 120 to 360 micromol/L).

• #52 Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

  https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00398-9

  This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). […] Untreated PKU, also known as PAH deficiency, results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and clinical features such as acquired microcephaly, seizures, psychological signs, and generalized hypopigmentation of skin (including hair and eyes). […] In untreated patients with PKU, blood Phe concentrations significantly increase, resulting in phenylpyruvic acid excreted in the urine. Conversely, Tyr concentrations are usually somewhat low. Untreated patients are characterized by severe intellectual disability, epilepsy, seizures, psychological behaviors, acquired microcephaly, generalized skin hypopigmentation, and a musty sweat odor.

• #53 What are common symptoms of phenylketonuria (PKU)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/pku/conditioninfo/symptoms

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Other symptoms include: […] Behavioral or social problems […] Seizures, shaking, or jerking movements in the arms and legs […] Stunted or slow growth […] Skin rashes, like eczema […] Small head size, called microcephaly […] A musty odor in urine, breath, or skin that is a result of the extra phenylalanine in the body […] Fair skin and blue eyes, due to the body’s failure to transform phenylalanine into melanin, the pigment responsible for a person’s coloring.

• #54 Phenylketonuria – Wikipedia

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

  Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. […] If a child is not diagnosed during the routine newborn screening test and a phenylalanine-restricted diet is not introduced, then phenylalanine levels in the blood will increase over time. Toxic levels of phenylalanine, along with insufficient levels of tyrosine, can interfere with infant development in ways that have permanent effects. The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a „musty odor” to the baby’s sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylacetone).

• #55 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/pku

  Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition. If people with PKU do not restrict the phenylalanine in their diet, they develop severe intellectual and developmental disabilities. […] Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities (IDDs). Adults with PKU who do not follow a special diet may develop unstable moods and take longer to process information. Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight.

• #56 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU often do not have any signs or symptoms at birth. However, by 6 months to one year of age, most children with the disorder will begin to show some developmental delays. […] As the disease progresses, PKU can lead to: […] Severe intellectual disability […] Delayed mental and social skills […] Behavior problems like hyperactivity […] Seizures, tremors and/or jerking movements […] A small head size (microcephaly) […] Other symptoms of the disorder can include: […] Changes in brain development due to how white matter develops. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #57 Phenylketonuria: symptoms, treatment, diagnosis and genetics | Medicover Genetics

  https://medicover-genetics.com/phenylketonuria-symptoms-treatment-diagnosis-and-genetics/

  Symptoms vary depending on the severity of the condition, which depends on the levels of phenylalanine hydroxylase (PAH), the enzyme that normally converts phenylalanine to other forms, in the body. Classic PKU the most severe form of the condition results when PAH is missing, and mild or moderate forms of PKU occur when PAH levels are reduced. […] Signs and symptoms of PKU include musty odor in breath, skin or urine due to excess amount of phenylalanine, microcephaly, hyperactivity, developmental delay, and skin rashes. […] Raised phenylalanine levels cause destruction of myelin, the protective layer of nerves in the brain, resulting in neurological problems like seizures, abnormal muscle movements, tremors, behavioral problems, and intellectual disability. […] Mild or moderate forms of PKU are less likely to result in brain damage. […] As high phenylalanine levels affect melanin production, PKU patients may have pale eyes, skin and hair.

• #58 Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

  https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00398-9

  If PKU is untreated, patients can experience severe intellectual disability, epilepsy, seizures, psychiatric movement behaviors, microcephaly, generalized hypopigmentation of skin (including eyes and hair), eczema, and a musty sweat odor. […] Late diagnosed or untreated PKU may be due to newborn screening failures and is most common in countries without newborn screening protocols or treatment. […] If treatment is not adequate, clinical signs can include lower extremity spasticity and cerebellar ataxia, tremor, encephalopathy, and visual abnormalities. […] Some cases may not be diagnosed until adulthood, presenting with mild-to-moderate neurological complications related to PKU. […] Since brain damage is one of the greatest risks for PKU patients, early detection and assessment of neural activity are important for patient health. […] However, treatment helps prevent major neurological deficits, cognitive abnormalities, and specific learning disabilities immediately after birth.

• #59 Phenylketonuria (PKU) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

  Starting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. […] A safe amount of phenylalanine differs for each person with PKU and can vary over time. In general, the idea is to consume only the amount of phenylalanine that’s necessary for healthy growth and body processes, but no more. […] The need for a nutritional supplement, especially if you or your child doesn’t find it appealing, and the limited food choices can make the PKU diet challenging. But making a firm commitment to this lifestyle change is the only way to prevent the serious health problems that people with PKU can develop. […] The Food and Drug Administration (FDA) approved the drug sapropterin (Kuvan) for the treatment of PKU. The drug may be used in combination with a PKU diet. Some people with PKU who are taking the medication may not need to follow a PKU diet. But the drug doesn’t work for everyone with PKU.

• #60 Newborn Screening Program – Phenylketonuria

  http://www.idph.state.il.us/healthwellness/fs/pku.htm

  Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine can become neurotoxic; early detection and treatment of hyperphenylalaninemia is necessary to prevent mental retardation. […] Although infants with PKU usually appear normal at birth, early symptoms may include skin rash, seizures, excessive restlessness, irritable behavior and a musty odor of the body or urine. Later signs include developmental delays, gait disturbances and mental retardation. […] Early diagnosis and treatment is essential to prevent developmental delays. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development.

• #61 Phenylketonuria (PKU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

  Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. If this condition isn’t treated, buildup of phenylalanine in your body causes symptoms including challenges with cognitive development (intellectual disability). […] Symptoms of untreated PKU include: Eczema. Skin and/or hair discoloration (lighter compared to other members of their family). Small head size (microcephaly). A musty odor to their breath, skin or urine. […] Severe symptoms of untreated PKU include: Behavioral problems. Developmental delays. Intellectual disabilities. Seizures (rare). […] Children and adults with mild hyperphenylalaninemia are at a much lower risk for intellectual disabilities in the absence of treatment. […] Phenylketonuria (PKU) is a lifelong condition and most people living with it lead healthy lives. After diagnosis, regular blood tests to monitor the level of phenylalanine in your blood are necessary. […] If you are on a restricted diet, you still need to eat foods and take vitamins to make up for the lack of protein in your diet. Make sure you follow your diet for your entire life to prevent symptoms that could be dangerous to your health.

• #62 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability. […] If not treated during infancy and childhood, PKU can cause developmental delay and intellectual disability. However, children who start PKU treatment as newborns and continue through childhood are expected to have normal growth and development. […] Those who stop treatment later in childhood or as adults may develop cognitive and mental health symptoms, including attention deficits, mood-related issues, poor self-control, reduced ability to plan and prioritize tasks, and brain “fog.” However, these symptoms can be at least partly reversed by going back on treatment.

• #63 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  The prognosis for normal intelligence is excellent when patients are promptly placed on a low-phenylalanine diet within the first month of life and receive careful and frequent monitoring. Full management by a medical biochemical geneticist and an experienced metabolic dietitian is essential for successful outcomes. However, some children may experience mild impairments in school functioning, particularly when dietary control is not optimal. Regular follow-up visits and adherence to dietary guidelines are necessary to optimize long-term health and cognitive outcomes for individuals with PKU.

• #64 Phenylketonuria | PKU | MedlinePlus

  https://medlineplus.gov/phenylketonuria.html

  Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can’t process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. […] Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.

• #65 Phenylketonuria (PKU) Clinical Presentation: History, Physical Examination, Complications

  https://emedicine.medscape.com/article/947781-clinical

  The clinical manifestations of PKU are largely of historical interest, because the damaging features of the disease are virtually always prevented through early diagnosis and treatment. […] Other manifestations of untreated PKU are as follows: Intellectual disability (the most common finding overall), Musty or mousy odor, Epilepsy, Extrapyramidal manifestations (eg, parkinsonism), Progressive white matter disease on brain MRI, Mood disorder. […] Subtle attention and performance deficits in organization and planning persist in treated patients. These deficits are in some cases related to phenylalanine levels and may interfere with academic achievement. […] The incidence of neuropsychiatric disease in PKU appears to be higher than in the general population and includes increased risk for depression, anxiety, and inattention, among others. It has been shown that these symptoms are exacerbated by high phenylalanine levels and improved by lower phenylalanine levels. These findings underscore the need for lifelong treatment.

• #66

  https://omim.org/entry/261600

  Evidence of heterogeneity in phenylketonuria was presented by Auerbach et al. (1967) and by Woolf et al. (1968). […] Burgard et al. (1996) found that all patients but one who had predicted in vitro residual enzyme activity greater than 20% had mild PKU, while those with predicted in vitro residual enzyme activity less than 20% were identified as having classical PKU. […] Mildly depressed IQ is common in treated PKU. Griffiths et al. (2000) analyzed IQ scores collected from 57 British children with early-treated classic PKU using variants of the Wechsler intelligence scale for children (WISC) in relation to indicators of dietary control such as serum phenylalanine levels and socioeconomic factors. […] In a retrospective study from birth in 13 patients with classic PKU, Barat et al. (2002) found greater variation of phenylalanine levels and a higher mean of cumulative variations in the 8 osteopenic patients than in 5 nonosteopenic patients. […] Brumm et al. (2010) reviewed studies of psychiatric symptoms and disorders in patients with PKU. Those with untreated PKU tended to have severe behavioral disturbances, including psychotic disorders, autistic features, hyperactivity, and aggression, as well as self-mutilation.

• #67 Phenylketonuria (PKU) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/phenylketonuria-pku

  Children with PKU often do not have any signs or symptoms at birth. However, by 6 months to one year of age, most children with the disorder will begin to show some developmental delays. […] As the disease progresses, PKU can lead to: […] Severe intellectual disability […] Delayed mental and social skills […] Behavior problems like hyperactivity […] Seizures, tremors and/or jerking movements […] A small head size (microcephaly) […] Other symptoms of the disorder can include: […] Changes in brain development due to how white matter develops. […] If treated, children with PKU may develop normally, although some may still have difficulty with language skills, memory, learning and executive function. Adults who discontinue treatment may see a higher incidence of psychiatric and cognitive changes, including anxiety, depression, reduced attention span and slower reaction times.

• #68 Phenylketonuria (PKU) – Children’s Health Issues – Merck Manual Consumer Version

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

  Children who are treated in the first few days of life do not develop the severe symptoms of phenylketonuria. A phenylalanine-restricted diet, if started early and maintained well, allows for mostly normal development. However, even with very good control of the diet, affected children still may develop mild mental health problems and may have difficulties in school. Dietary restrictions started after 2 to 3 years of age may control extreme hyperactivity and seizures and raise the child’s eventual intelligence quotient (IQ) but do not reverse intellectual disability. Recent evidence suggests that some intellectually disabled adults with PKU (born before newborn screening tests were available) may function better when they follow the phenylalanine-restricted diet. […] A phenylalanine-restricted diet should continue for life, or intelligence may decrease and neurologic and mental problems may ensue. […] Children who are born to mothers who have poorly controlled PKU (that is, they have high phenylalanine levels) during pregnancy are at high risk of developing an abnormally small head (microcephaly) and developmental problems. This condition is called maternal PKU.

• #69 Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/947781-overview

  Other manifestations of untreated PKU are as follows: Intellectual disability (the most common finding overall), Musty or mousy odor, Epilepsy, Extrapyramidal manifestations (eg, parkinsonism), Progressive white matter disease on brain MRI, Mood disorder. […] Early initiation of treatment for phenylketonuria (PKU) in the first few days of life is critical in preventing the severe manifestations of the disease. While a strict low-phenylalanine diet can help manage symptoms, mild cognitive deficits and mental health issues may still arise even with good dietary control. If treatment is not started until after 2 to 3 years of age, it may only effectively control extreme hyperactivity and seizures, with limited impact on cognitive outcomes. Children born to mothers with poorly controlled PKU during pregnancy are at high risk of microcephaly and developmental deficits in utero.

• #70 Phenylketonuria (PKU) – Pediatrics – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/phenylketonuria-pku

  Most children with phenylketonuria are normal at birth but develop symptoms and signs slowly over several months as phenylalanine accumulates. The hallmark of untreated PKU is severe intellectual disability. […] Children also manifest extreme hyperactivity, gait disturbance, and psychoses and often exhibit an unpleasant, mousy body odor caused by phenylacetic acid (a breakdown product of phenylalanine) in urine and sweat. Children also tend to have a lighter skin, hair, and eye color than unaffected family members, and some may develop a rash similar to infantile eczema. If treatment is not begun early, children may develop extreme hyperactivity and intractable seizures. […] Adequate treatment begun in the first days of life prevents the severe manifestations of the disease. However, mild cognitive deficits and mental health issues may still occur even with good dietary control. Treatment begun after 2 to 3 years may be effective only in controlling the extreme hyperactivity and intractable seizures. […] Children born to mothers with poorly controlled PKU (ie, they have high phenylalanine levels) during pregnancy are at high risk of microcephaly and developmental deficit.

• #71 Phenylketonuria (PKU) – Children’s Health Issues – Merck Manual Consumer Version

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

  Children who are treated in the first few days of life do not develop the severe symptoms of phenylketonuria. A phenylalanine-restricted diet, if started early and maintained well, allows for mostly normal development. However, even with very good control of the diet, affected children still may develop mild mental health problems and may have difficulties in school. Dietary restrictions started after 2 to 3 years of age may control extreme hyperactivity and seizures and raise the child’s eventual intelligence quotient (IQ) but do not reverse intellectual disability. Recent evidence suggests that some intellectually disabled adults with PKU (born before newborn screening tests were available) may function better when they follow the phenylalanine-restricted diet. […] A phenylalanine-restricted diet should continue for life, or intelligence may decrease and neurologic and mental problems may ensue. […] Children who are born to mothers who have poorly controlled PKU (that is, they have high phenylalanine levels) during pregnancy are at high risk of developing an abnormally small head (microcephaly) and developmental problems. This condition is called maternal PKU.

• #72 PKU (phenylketonuria) – newbornscreening.info

  https://www.newbornscreening.info/pku-phenylketonuria/

  Maternal PKU symptoms may include microcephaly (heads and brains that are very small), intellectual disability, heart defects, and low birth weight. […] Babies with PKU seem perfectly normal at birth. The first symptoms are usually seen around 6 months of age. Untreated infants may be late in learning to sit, crawl and stand. They may pay less attention to things around them. Without treatment, a child with PKU will have intellectual disabilities. […] Some of the effects of untreated PKU include: intellectual disabilities, behavior problems, hyperactivity, restlessness or irritability, seizures, a skin condition called eczema, a musty or mousy body odor, fair hair and skin. […] Children who start treatment after 6 months of age often have intellectual disabilities. Treatment is still important, even if started late, because it can help control behavior and mood problems and can prevent further damage to the brain.

• #73 Phenylketonuria

  https://www.nhs.uk/conditions/phenylketonuria/

  People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage. […] Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. […] Other symptoms of untreated PKU include: behavioural difficulties such as frequent temper tantrums and episodes of self-harm, fairer skin, hair and eyes than siblings who do not have the condition, eczema, repeatably being sick, jerking movements in arms and legs, tremors, epilepsy, musty smell to the breath, skin and urine. […] As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they’ll remain well and their brain function should be unaffected. […] Unlike in young children, there is not yet any evidence that high phenylalanine levels cause any permanent brain damage in adults with PKU.

• #74 Phenylketonuria (PKU) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/phenylketonuria-pku

  Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability. […] If not treated during infancy and childhood, PKU can cause developmental delay and intellectual disability. However, children who start PKU treatment as newborns and continue through childhood are expected to have normal growth and development. […] Those who stop treatment later in childhood or as adults may develop cognitive and mental health symptoms, including attention deficits, mood-related issues, poor self-control, reduced ability to plan and prioritize tasks, and brain “fog.” However, these symptoms can be at least partly reversed by going back on treatment.

• #75 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=160&contentid=58

  Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. If they don’t, they may have mood disorders, poor memory and problem-solving skills, depression, and uncontrollable shaking (tremors). […] If PKU is untreated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage and other serious problems.

• #76 Phenylketonuria (PKU) Clinical Presentation: History, Physical Examination, Complications

  https://emedicine.medscape.com/article/947781-clinical

  Most individuals with phenylketonuria (PKU) appear typical and asymptomatic at birth. Elevated phenylalanine levels exert pathology over days, weeks, and months, rather than acute, critical illness, akin to other inborn errors of metabolism. […] If an affected patient does not undergo newborn screening or has false-negative results (rare), progressive developmental delay is the most common presentation. Other findings in untreated children in later infancy and childhood may include recurrent vomiting, mousy odor, eczema, seizures, severe behavioral disorders. […] While these patients escaped the most severe manifestations of PKU, many described poor focus and deteriorating cognitive skills. Those same individuals who ceased dietary treatment in childhood may also have evidence of white matter changes visible on magnetic resonance imaging (MRI), and those patients may experience an intelligence quotient (IQ) decline of 10 points or more.

• #77 Phenylketonuria (PKU) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

  Starting treatment early and continuing treatment throughout life can help prevent intellectual disability and major health problems. […] A safe amount of phenylalanine differs for each person with PKU and can vary over time. In general, the idea is to consume only the amount of phenylalanine that’s necessary for healthy growth and body processes, but no more. […] The need for a nutritional supplement, especially if you or your child doesn’t find it appealing, and the limited food choices can make the PKU diet challenging. But making a firm commitment to this lifestyle change is the only way to prevent the serious health problems that people with PKU can develop. […] The Food and Drug Administration (FDA) approved the drug sapropterin (Kuvan) for the treatment of PKU. The drug may be used in combination with a PKU diet. Some people with PKU who are taking the medication may not need to follow a PKU diet. But the drug doesn’t work for everyone with PKU.

• #78 Phenylketonuria (PKU) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

  The FDA also approved a novel enzyme therapy, pegvaliase-pqpz (Palynziq), for adults with PKU when current therapy does not adequately reduce the level of phenylalanine. But because of frequent side effects, which can be severe, this treatment is only available as part of a restricted program under the supervision of certified health care providers.

• #79 Phenylketonuria (PKU) | Francesca Jimena Chevarría Gómez | Elio Academy

  https://elioacademy.org/student/23/francesca-gomez

  Finally, for adults with PKU who have uncontrolled blood Phe levels, they may opt for pegvaliase therapy. This is an enzyme replacement therapy that uses an enzyme pegvaliase. It converts phenylalanine to ammonia and trans-cinnamic acid, so that phenylalanine levels are reduced to normal ranges regardless of the activity of the PAH enzyme or the BH4 cofactor. Although effective, most patients experience side effects such as skin reactions, arthralgia and, rarely, anaphylactic responses.

• #80 Phenylketonuria (PKU) Information & Treatment

  https://www.columbiadoctors.org/health-library/condition/phenylketonuria-pku/

  Phenylketonuria (PKU) is a rare genetic condition in which the body cannot break down an amino acid called phenylalanine, which is a part of protein. If PKU is not treated, phenylalanine can build up in the blood and lead to intellectual disability and problems with the central nervous system (brain and spinal cord). […] Early symptoms of PKU in a baby may include: A musty odor to the skin, hair, and urine. Skin problems. Being sensitive to light. […] Without early treatment, the child may have growth problems, developmental delays, seizures, and severe intellectual disability. […] Finding and starting treatment for PKU early usually can prevent brain damage and other long-term problems. […] For a few people, treatment with sapropterin (Kuvan) may help when used with a PKU diet. Talk to your doctor about the pros and cons of this medicine. […] Babies born to mothers who have high levels of phenylalanine are at risk for having a very small head, intellectual disability, growth problems, and heart problems.

• #81 Phenylketonuria – PTC Therapeutics (United States)

  https://www.ptcbio.com/therapeutic-areas/phenylketonuria/

  Metabolic condition caused by mutations to phenylalanine hydroxylase that can lead to cognitive disabilities and seizures […] Phenylketonuria (PKU) is a rare, inherited metabolic disease, which affects the brain. It is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. If left untreated or poorly managed, phenylalanine an essential amino acid found in all proteins and most foods can build up to harmful levels in the body. This causes severe and irreversible disabilities, such as permanent intellectual disability, seizures, delayed development, memory loss, and behavioral and emotional problems. […] Newborns with phenylketonuria initially dont have any symptoms, but symptoms are usually progressive, and damage caused by toxic levels of phenylalanine in the first few years of life is irreversible.

• #82

  https://link.springer.com/article/10.1007/s12325-021-01986-2

  Phenylketonuria (PKU) is a rare, metabolic genetic disorder that can cause various neuropsychological symptoms that often affect patients health-related quality of life, even for patients with good metabolic control. […] Patient interviews elicited four key symptom themes: neurocognitive function, emotional and behavioral, physical functioning, and physical health. […] Neurocognitive impairments are key defining symptoms of PKU. These include difficulties with focusing and concentration, thinking clearly, organization and planning, short-term memory, and headaches. […] The emotional and behavioral theme describes how the patient interacts with others and related emotions. These include anxiety, irritability, impulsivity, mood swings, depression, difficulty with anger management, lack of ambition, and learning difficulties.

• #83 Phenylketonuria (PKU) Disease

  https://www.verywellhealth.com/phenylketonuria-pku-disease-2860816

  An infant born with phenylketonuria will develop normally for the first few months. If left untreated, symptoms begin to develop by three to six months of age. […] PKU disease symptoms may include: Delayed development, Mental retardation, Seizures, Very dry skin, eczema, and rashes, Distinctive mousy or musty odor of the urine, breath, and sweat, Light complexion, light or blonde hair, Irritability, restlessness, hyperactivity, Behavioral or psychiatric disorders, particularly later in life. […] While healthcare providers emphasize the need to control phenylalanine levels until age 12 to support cognitive development, research shows that limiting dietary intake of phenylalanine may be important throughout life. Phenylalanine levels may continue to affect the brain during the teen and adult years. In fact, higher than recommended phenylalanine levels in these years may result in a lower IQ. […] Continuing a restricted diet into adulthood can cause a lower quality of life for some people, but the overall cognitive benefits may offset the negative aspects.

• #84 Phenylketonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/phenylketonuria/

  If the disorder is not treated properly in infancy and childhood, then severe neurological problems can develop. This includes intellectual disability. There is also growing evidence that older children or adults who do not follow their recommended treatment (i.e. diet and medical foods) can develop problems. These issues include reduced attention span, a reduced or slow ability to process information and psychiatric issues like depression, anxiety or phobias. Some people who follow their treatment plan may also develop very mild symptoms. […] Doctors strongly recommend that people with phenylketonuria (PKU) remain on a special diet for life. There was a time where doctors believe that teenagers and adults could stop following the diet as they got older. Doctors no longer recommend this. Doctors know understand that when people stop following the diet that they may experience problems, even if those problems aren’t obvious. Research shows that teenagers who stop following the diet do not do as well in school. Adults can develop psychiatric issues including depression, anxiety and phobias, and may process information slowly. […] With prompt diagnosis and treatment, people with phenylketonuria can avoid the most severe symptoms associated with this disorder and experience normal development. Their life expectancy will most likely be no different from someone without the disorder.

• #85 Newborn Screening Program – Phenylketonuria

  http://www.idph.state.il.us/healthwellness/fs/pku.htm

  Infants and children with PKU or hyperphenylalaninemia should have regular follow-up appointments with a metabolic disease specialist. […] Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being.

• #86 Phenylketonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/phenylketonuria/

  If the disorder is not treated properly in infancy and childhood, then severe neurological problems can develop. This includes intellectual disability. There is also growing evidence that older children or adults who do not follow their recommended treatment (i.e. diet and medical foods) can develop problems. These issues include reduced attention span, a reduced or slow ability to process information and psychiatric issues like depression, anxiety or phobias. Some people who follow their treatment plan may also develop very mild symptoms. […] Doctors strongly recommend that people with phenylketonuria (PKU) remain on a special diet for life. There was a time where doctors believe that teenagers and adults could stop following the diet as they got older. Doctors no longer recommend this. Doctors know understand that when people stop following the diet that they may experience problems, even if those problems aren’t obvious. Research shows that teenagers who stop following the diet do not do as well in school. Adults can develop psychiatric issues including depression, anxiety and phobias, and may process information slowly. […] With prompt diagnosis and treatment, people with phenylketonuria can avoid the most severe symptoms associated with this disorder and experience normal development. Their life expectancy will most likely be no different from someone without the disorder.

• #87 Phenylketonuria (PKU) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/phenylketonuria-pku/

  Phenylketonuria (PKU) is a genetic metabolic disorder in which phenylalanine (phe) is unable to be metabolised. […] If PKU is not treated, phe can build up to harmful levels in the body and this can affect many body systems including the brain and nervous system. […] PKU varies from mild to severe. The most severe form is known as classic PKU. Without treatment, children with classic PKU develop permanent intellectual disability. Light skin and hair, seizures, developmental delays, behavioural problems, and psychiatric disorders are also common. […] Early diagnosis and treatment of PKU ensures that babies grow and develop in a similar way to their healthy peers who dont have PKU. However, if not diagnosed and treated early, high levels of phe in the blood from PKU can cause developmental delays noticeable in the very first year of life, neurological complications including intellectual disability, hyperactivity and poor coordination, aggressive behaviour or emotional disturbances including anxiety, and, if left untreated, severe brain damage.

• #88 Newborn Screening Program – Phenylketonuria

  http://www.idph.state.il.us/healthwellness/fs/pku.htm

  Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine can become neurotoxic; early detection and treatment of hyperphenylalaninemia is necessary to prevent mental retardation. […] Although infants with PKU usually appear normal at birth, early symptoms may include skin rash, seizures, excessive restlessness, irritable behavior and a musty odor of the body or urine. Later signs include developmental delays, gait disturbances and mental retardation. […] Early diagnosis and treatment is essential to prevent developmental delays. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development.

• #89

• #90 Phenylketonuria (PKU) – Cardiology Consultants of Atlanta

  https://www.cardiology-consultants.com/for-patients/patient-education?DOCHWID=stp1354

  Phenylketonuria (PKU) is an inherited disorder in which the body cannot break down an amino acid called phenylalanine, which is a part of protein. If treatment is not started soon after birth, phenylalanine levels rise and can cause lasting brain and nervous system damage, such as intellectual disability. […] Symptoms of PKU usually appear within a few months of birth, after phenylalanine has built up in a baby’s blood. […] Early symptoms may include: A musty odor to the skin, hair, and urine. Weight loss from vomiting and frequent diarrhea. Irritability. Skin problems. Sensitivity to light. […] People with PKU must follow a diet low in protein throughout life. Women of childbearing age with PKU must carefully manage their phenylalanine levels to prevent harm to their baby should they become pregnant. Babies born to mothers who have high phenylalanine levels during pregnancy are at risk for intellectual disability and other developmental problems.

• #91 Phenylketonuria (PKU) Brownsville OBGYN Associates | Texas

  https://bogagyn.com/health-library/healthwise?DOCHWID=stp1354

  Phenylketonuria (PKU) is an inherited disorder in which the body cannot break down an amino acid called phenylalanine, which is a part of protein. If treatment is not started soon after birth, phenylalanine levels rise and can cause lasting brain and nervous system damage, such as intellectual disability. […] Symptoms of PKU usually appear within a few months of birth, after phenylalanine has built up in a baby’s blood. […] Early symptoms may include: A musty odor to the skin, hair, and urine. Weight loss from vomiting and frequent diarrhea. Irritability. Skin problems. Sensitivity to light. […] Screening for PKU is routinely done shortly after birth, making early diagnosis and treatment possible. […] Babies born to mothers who have high phenylalanine levels during pregnancy are at risk for intellectual disability and other developmental problems.

• #92 Phenylketonuria (PKU) Clinical Presentation: History, Physical Examination, Complications

  https://emedicine.medscape.com/article/947781-clinical

  The clinical manifestations of PKU are largely of historical interest, because the damaging features of the disease are virtually always prevented through early diagnosis and treatment. […] Other manifestations of untreated PKU are as follows: Intellectual disability (the most common finding overall), Musty or mousy odor, Epilepsy, Extrapyramidal manifestations (eg, parkinsonism), Progressive white matter disease on brain MRI, Mood disorder. […] Subtle attention and performance deficits in organization and planning persist in treated patients. These deficits are in some cases related to phenylalanine levels and may interfere with academic achievement. […] The incidence of neuropsychiatric disease in PKU appears to be higher than in the general population and includes increased risk for depression, anxiety, and inattention, among others. It has been shown that these symptoms are exacerbated by high phenylalanine levels and improved by lower phenylalanine levels. These findings underscore the need for lifelong treatment.

• #93 Phenylketonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/phenylketonuria/

  If the disorder is not treated properly in infancy and childhood, then severe neurological problems can develop. This includes intellectual disability. There is also growing evidence that older children or adults who do not follow their recommended treatment (i.e. diet and medical foods) can develop problems. These issues include reduced attention span, a reduced or slow ability to process information and psychiatric issues like depression, anxiety or phobias. Some people who follow their treatment plan may also develop very mild symptoms. […] Doctors strongly recommend that people with phenylketonuria (PKU) remain on a special diet for life. There was a time where doctors believe that teenagers and adults could stop following the diet as they got older. Doctors no longer recommend this. Doctors know understand that when people stop following the diet that they may experience problems, even if those problems aren’t obvious. Research shows that teenagers who stop following the diet do not do as well in school. Adults can develop psychiatric issues including depression, anxiety and phobias, and may process information slowly. […] With prompt diagnosis and treatment, people with phenylketonuria can avoid the most severe symptoms associated with this disorder and experience normal development. Their life expectancy will most likely be no different from someone without the disorder.

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