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.

 2206  219 AIIMSAIIMS 2007 Report Error

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.