What is homocystinuria?
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.
How is homocystinuria treated?
Treatment for homocystinuria may include eating foods low in certain amino acids and taking vitamin supplements and medicine to enhance the breakdown of homocysteine.
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