Which enzyme's deficiency is associated with an increased risk of developing hyperhomocysteinemia, a condition that can lead to cardiovascular disease?

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

Explanation

Cystathionine beta-synthase is an enzyme involved in the transsulfuration pathway, which converts homocysteine to cysteine. Its deficiency can lead to hyperhomocysteinemia, increasing the risk of cardiovascular disease.

Mnemonic

'CBS' = 'cardio beware syndrome'

Source

Biochemistry journals
Enzymes in Disease Biochemistry Amino Acid Metabolism Disorders Hard MEDICAL Confidence: medium