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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.
Where to Start. 1  Genetics Home Reference (GHR) contains information on Homocystinuria due to MTHFR deficiency. This website is maintained by the National Library of Medicine. 2  LabTests Online provides information on testing homocysteine levels in general. Click on LabTests Online to view the information page.