Skip to Content
Home > Wellness > Health Library > 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 a
medicine (called betaine) to enhance the breakdown of homocysteine.
January 27, 2011
E. Gregory Thompson, MD - Internal Medicine & George Philippides, MD - Cardiology
How this information was developed to help you make better health decisions.
To learn more visit Healthwise.org
© 1995-2013 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.
Our interactive Decision Points guide you through making key health decisions by combining medical information with your personal information.
You'll find Decision Points to help you answer questions about:
Get started learning more about your health!
Our Interactive Tools can help you make smart decisions for a healthier life. You'll find personal calculators and tools for health and fitness, lifestyle checkups, and pregnancy.
Feeling under the weather?
Use our interactive symptom checker to evaluate your symptoms and determine appropriate action or treatment.
Genesis HealthCare System | 1-800-322-4762