Short Answer Questions · Q7
Q.Write a note on PKU (phenylketonuria).
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Start your 14-day free trial to unlock the full solution →PKU is an autosomal recessive disorder in which the missing enzyme phenylalanine hydroxylase lets phenylalanine build up and damage brain development.
Step 1. PKU arises when recessive alleles are present in the homozygous condition, so the enzyme phenylalanine hydroxylase is not produced.
Step 2. This enzyme is normally needed to convert the amino acid phenylalanine into tyrosine; without it, phenylalanine and its breakdown products accumulate in the blood and cerebrospinal fluid. …
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