Question

Phenylketonuria (PKU) is an inherited disease which refers to

• A. Decrease in phenylalanine in tissue and blood
• B. Increase in phenyl pyruvic acid in tissue and blood
• C. Elimination of sugar in urine
• D. Elimination of gentisic acid in urine

Answer 1

The correct option is B Increase in phenyl pyruvic acid in tissue and blood

Phenylketonuria is the genetically inherited disease. It occurs due to deficiency of an enzyme phenylalanine hydroxylase which catalyses the conversion of amino acid phenylalanine into tyrosin. This results in the increased level of phenylalanine in the blood at the same time it starts depositing in various body tissue.