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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.
There are two main variants or types of homocystinuria: one is responsive to vitamin B6 (pyridoxine, the cofactor of cystathionine beta synthase) and the other does not respond to vitamin B6 and usually has more-pronounced symptoms than the first variant.