Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food (metabolism). This enzyme deficiency may cause a buildup of homocysteine in the blood. Excess homocysteine may be released in the urine.
Babies born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays. People with homocystinuria may develop diseases of the heart and blood vessels at a young age. If homocystinuria is not diagnosed in infancy, other problems may develop, including:
People with homocystinuria may have a thin appearance, with long, slender arms, legs, fingers, and toes.
Treatment for homocystinuria may include eating foods low in certain amino acids and taking vitamin supplements and medicine to enhance the breakdown of homocysteine.
Current as of: November 15, 2023
Author: Healthwise Staff Clinical Review Board All Healthwise education is reviewed by a team that includes physicians, nurses, advanced practitioners, registered dieticians, and other healthcare professionals.
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Author: Healthwise Staff
Clinical Review Board All Healthwise education is reviewed by a team that includes physicians, nurses, advanced practitioners, registered dieticians, and other healthcare professionals.
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