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Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
The level of homocysteine in the blood is influenced by the presence of these substances. Homocystinuria is a rare genetic disorder that occurs in about one in every 200,000 individuals. This congenital metabolic disorder causes large amounts of homocysteine to be excreted in the urine. Homocystinuria is associated mental retardation and the development of heart disease before age 30.