Which enzyme's mutation is associated with the development of Homocystinuria, a genetic disorder characterized by elevated levels of homocysteine in the blood?

A Cystathionine beta-Synthase ✓
B Methionine Synthase
C Homocysteine Methyltransferase
D Betaine-Homocysteine Methyltransferase

Explanation

The enzyme Cystathionine beta-Synthase is involved in the conversion of homocysteine to cystathionine. A mutation in this enzyme leads to Homocystinuria, a genetic disorder characterized by elevated levels of homocysteine in the blood.

Mnemonic

CBS = Cystathionine beta-Synthase, Homocystinuria = High Homocysteine

Source

OMIM Database
Enzymes in Disease Biochemistry Amino Acid Metabolism Disorders Hard MEDICAL Confidence: high