Homocystinuria, CBS-related

Homocystinuria, CBS-related is an inherited metabolic disease characterized by developmental delays, eye problems, skeletal abnormalities, and increased risk of blood clots. It involves abnormalities in the enzyme cystathionine beta-synthase (CBS) that breaks down the amino acid homocysteine. Symptoms are believed to be due to the toxic build-up of homocysteine and its metabolites in the body. Homocystinuria, CBS-related is also referred to as “classical homocystinuria.” View testing options