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Evaluation · Q31

Q.Mention the symptoms of Phenylketonuria.

Tamil Nadu DgeTextbookSubjectiveImportance★★★★★
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Step 1. Recall the metabolic defect behind the symptoms: PKU is caused by a defective PAH gene, so the enzyme phenylalanine hydroxylase (which normally converts phenylalanine to tyrosine) is missing, and phenylalanine accumulates and is converted instead into phenylpyruvic acid and related derivatives.

Step 2. List the resulting symptoms as given in the text: severe mental retardation, and light pigmentation of the skin and hair (because reduced tyrosine availability limits melanin synthesis downstream). …

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