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Q. Assertion: Phenylketonuria is a recessive hereditary disease caused by bodys failure to oxidize an amino acid phenylalanine to tyrosine, because of defective enzyme. Reason: It results the presence of phenylalanine acid in urine.

AIIMSAIIMS 2007

Solution:

Phenylketonuria is due to deficiency of liver enzyme. Phenylalanine hydroxylase which converts phenylalanine into tryosine. It occurs in persons who are homozygous recessive. It results with a high level of phenylalanine in blood, tissue fluids and urine.