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Q. Assertion : Phenylpyruvic acid is excreted through urine in case of phenylketonuria.
Reason : The affected individual lacks enzyme phenylalanine hydroxylase.

AIIMSAIIMS 2018Principles of Inheritance and Variation

Solution:

Phenylketonuria is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. It is an autosomal recessive trait. It is a hereditary human condition resulting from the inability to convert phenylalanine into tyrosine. This leads to over production of phenylalanine and its conversion to phenylpyruvic acid and other derivatives. These are then excreted in urine due to poor absorption by kidneys.