Which enzyme is involved in the metabolism of phenylalanine, and what disease is caused by its deficiency?

A Phenylalanine hydroxylase, causing Phenylketonuria (PKU) ✓
B Tyrosinase, causing Albinism
C Trypsin, causing Pancreatic insufficiency
D Lactase, causing Lactose intolerance

Explanation

Phenylalanine hydroxylase is an enzyme involved in the metabolism of phenylalanine, an amino acid. Deficiency of this enzyme leads to Phenylketonuria (PKU), a genetic disorder characterized by the accumulation of phenylalanine in the body.

Mnemonic

Phe + hydroxylase = PKU

Source

NCERT Class 12 Biochemistry
Enzymes in Disease Biochemistry Amino Acid Metabolism Easy MEDICAL Confidence: high