Home > Homocystinuria
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 Medicine
Current as ofOctober 13, 2016
Current as of:
October 13, 2016
E. Gregory Thompson, MD - Internal Medicine
To learn more about Healthwise, visit Healthwise.org.
© 1995-2017 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.
Addiction is treated by our Behavioral Health Doctors.
4 Medical Blvd,
Hattiesburg, MS 39402
27 B South 6th Street
Bay Springs, MS 39422
Covington County Hospital
701 S. Holly Ave
Collins, MS 39428
CONNECT WITH FORREST HEALTH
Notice of Privacy Practices · PUBLIC RECORDS REQUEST · FINANCIAL ASSISTANCE · NON-DISCRIMINATION NOTICE
REQUEST FROM LAW ENFORCEMENT FOR RELEASE OF PROTECTED HEALTH INFORMATION 6051 US HIGHWAY 49, HATTIESBURG MS 39401 · 601-288-7000 · © FORREST HEALTH · ALL RIGHTS RESERVED ·