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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.
January 15, 2013
E. Gregory Thompson, MD - Internal Medicine & George Philippides, MD - Cardiology
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