PHENYLKETONURIA. CAUSES SIGN AND SYMPTOMSpptx ABHILAL KURUPALATH

PHENYLKETONURIA. CAUSES SIGN AND SYMPTOMSpptx ABHILAL KURUPALATH

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  PHENYLKETONURIA Presented by :Abhilal K
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  Contents • Introduction • Definition •Causes • Signs and symptoms • Diagnosis • Treatment • Conclusion • Reference
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  Introduction Phenylketonuria (PKU) isa rare genetic disorder characterized by the inability to break down the amino acid phenylalanine (Phe)
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  Definition Phenylketonuria (PKU) isan autosomal recessive, inborn error of amino acid metabolism which is usually caused by a deficiency of the hepatic enzyme, phenylalanine hydroxylase (PAH).
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  Features Physical Features: 1. Mustyor mousy body odor 2. Pale skin 3. Blond or light brown hair 4. Blue or green eyes 5. Eczema or acne 6. Skin rashes 7. Hair loss
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  Neurological Features: 1. Intellectualdisability 2. Seizures 3. Delayed speech and language development 4. Hyperactivity 5. Behavioral problems (anxiety, depression) 6. Poor coordination and balance 7. Tremors
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  Behavioural Features: 1. Irritability 2.Mood swings 3. Aggression 4. Anxiety 5. Depression 6. Social withdrawal
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  Causes • Genetic Causes •Environmental Factors • Risk Factors
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  Genetic Causes 1. Autosomalrecessive inheritance: PKU is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. 2. PAH gene mutations: Over 500 mutations in the PAH gene have been identified, leading to varying levels of enzyme deficiency. 3. Genetic variants: Some genetic variants can affect the severity of PKU or the response to treatment
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  Environmental Factors 1. MaternalPKU: Untreated PKU in pregnant women can lead to elevated Phe levels, affecting fetal development. 2. Dietary factors: Consuming foods high in Phe can exacerbate PKU symptoms
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  Risk Factors 1. Familyhistory: Individuals with a family history of PKU are more likely to develop the condition. 2. Ethnicity: PKU is more common in individuals of European descent. 3. Consanguineous relationships: Children born to parents who are closely related are at increased risk. 4. Age: PKU is typically diagnosed in infancy or early childhood.
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  Signs and symptoms •A musty odor in the breath, skin or urine • Neurological problems like seizures • Lighter skin, hair and eye color • Skin rashes, such as eczema • Intellectual disability • Delayed development • Microcephaly
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  Diagnosis 1. Ferric chloridetest 2. Guthrie’s test 3. Chromatography
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  Treatment 1. Homocystinuria: Thetreatment is with methio-nine-free diet. 2. Galactosaemia: The treatment is with lactose and galactose- free diet. 3. Maple syrup urine disease ( Menkes’ disease): The treatment is with a diet low in leucine, iso-leucine and valine. 4. Hyperprolinaemia: The treatment is with low proline diet. 5. Leucine-sensitive hypoglycaemia: The treatment is with low- protein, leucine-defi cient diet. 6. Fructose intolerance: Fructose, sucrose and other sugars should be replaced in diet.
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  Conclusion Phenylketonuria (PKU) isa rare genetic disorder requiring prompt diagnosis and management to prevent severe cognitive, behavioral, and physical complications. Early detection through newborn screening and adherence to a low-phenylalanine diet, supplements, and medications can significantly improve quality of life.
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  Reference • Ahuja N,ed. A short textbook of psychiatry. 7th ed. New delhi: jaypee brothers medical publishers;2019: 157-158. • Mayo clinic. Phenylketonuria symposium and causes. 2018. Avaliable from: https://www.mayoclinic.org/diseases-conditions/phenylketo nuria/symptoms-causes/syc-20376302 (accessed 05 oct)