Skip to Content
Homocystinuria is a rare inherited disease that causes a deficiency of
one of several
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. These features have been described
as "marfanoid" because of the similarity to
homocystinuria may include eating foods low in certain
amino acids and taking vitamin supplements and medicine to enhance the breakdown of homocysteine.
Other Works Consulted
Rezvani I, Rosenblatt DS (2011). Methionine section of Defects in metabolism of amino acids. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 19th ed., pp. 425–429. Philadelphia: Saunders.
ByHealthwise StaffPrimary Medical ReviewerE. Gregory Thompson, MD - Internal MedicineSpecialist Medical ReviewerGeorge Philippides, MD - Cardiology
Current as ofFebruary 5, 2016
Current as of:
February 5, 2016
E. Gregory Thompson, MD - Internal Medicine & George Philippides, MD - Cardiology
To learn more about Healthwise, visit Healthwise.org.
© 1995-2016 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.
© Copyright 2016 Rush-Copley Medical Center • 2000 Ogden Avenue; Aurora, IL 60504
Main: 630-978-6200 • Physician Referral & Information: 630-978-6700 or 866-4COPLEY (866-426-7539)