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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.
Listen. 1  This severe homocystinuria is caused by rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). In severe MTHFR deficiency, signs and symptoms become apparent in infancy, however the condition can be milder, presenting in later childhood or adulthood.