Which enzyme's deficiency is associated with the development of homocystinuria, a condition characterized by elevated homocysteine levels in the blood?
Explanation
Cystathionine beta-synthase is an enzyme involved in the transsulfuration pathway, which converts homocysteine to cystathionine. Deficiency of this enzyme leads to homocystinuria.
Source
OMIM - Online Mendelian Inheritance in Man











