Classic homocystinuria
Classic homocystinuria
Definition
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
Also known as classic homocystinuria, cystathionine beta-synthase deficiency, Homocystinuria due to Cystathionine Beta-Synthase Deficiency, homocystinuria, B6-responsive and nonresponsive types, thrombosis, hyperhomocysteinemic — per MONDO