-
PKU is one of the best known hereditary disorders in amino acid metabolism. The defect is attributed to a lesion in one of the following enzymatic activities
-
- Phenylalanine ammonia lyase
- Phenylalanine hydroxylase
- Tryosine hydroxylase
- Phenylalanine transaminase
Correct Option: B
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
