Overview
uria Homocystineuria is an inherited metabolic disorder caused by a deficiency in the enzymes necessary for the breakdown of the amino acid homocysteine. In people with homocystineuria, homocysteine can accumulate to dangerous levels, causing cardiovascular, skeletal and central nervous system problems. Early diagnosis and effective treatment of homocystineuria can result in improved patient prognosis. Treatment of homocystineuria includes dietary restrictions, supplements to provide the deficient enzymes and medications to reduce the levels of homocysteine. The effective management of homocystineuria depends on a combination of mechanisms to ensure the maintenance of normal homocysteine levels and the prevention of serious, long-term health complications.