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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.
Homocystinuria is an autosomal recessive inherited metabolic disorder caused by a defect in an enzyme that converts the amino acid homocysteine to cystathionine, resulting in accumulation of homocysteine in the blood and its excretion in urine.