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Article

Molecular genetics of hepatic methionine adenosyltransferase deficiency.

Pharmacology & therapeutics - 1 Jan 2000

Chou J Y

Abstract excerpt

Hepatic methionine adenosyltransferase (MAT) deficiency is caused by mutations in the human MAT1A gene that abolish or reduce hepatic MAT activity that catalyzes the synthesis of S-adenosylmethionine from methionine and ATP. This genetic disorder is characterized by isolated persistent hypermethioninemia in the absence of cystathionine beta-synthase deficiency, tyrosinemia, or liver disease. Depending on the...

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PMID: 10674710
DOI: 10.1016/s0163-7258(99)00047-9

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