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Question
Short Answer Question.
Write note on –PKU.
Short Note
Solution
- Phenylketonuria is an inborn metabolic disorder caused due to deficiency of phenylalanine hydroxylase enzyme.
- Phenylketonuria is caused due to recessive autosomal genes.
- When recessive genes are present in homozygous condition, phenylalanine hydroxylase enzyme is not produced.
- This enzyme is essential for the conversion of amino acid phenylalanine into tyrosine.
- Due to the absence of this enzyme, phenylalanine is not converted into tyrosine.
- Hence, phenylalanine and its derivatives are accumulated in blood and cerebrospinal fluid (CSF).
- It affects development of the brain and causes mental retardation.
- Excess phenylalanine is excreted in urine, hence this disease is called phenylketonuria.
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