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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.
Homocysteine is a naturally occurring amino acid found in the body. While homocysteine is always present in the body, it can cause problems if it is present in too high of an amount. Found in the blood stream, it is thought to be directly related to a variety of heart-related problems.