Which enzyme's dysfunction is associated with the development of homocystinuria, a condition characterized by elevated levels of homocysteine in the blood?

A Cystathionine beta-synthase ✓
B Methionine synthase
C Homocysteine methyltransferase
D Betaine-homocysteine methyltransferase

Explanation

Cystathionine beta-synthase is an enzyme involved in the metabolism of homocysteine, and its dysfunction leads to the accumulation of homocysteine in the blood, causing homocystinuria.

Source

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