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Article

Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

Acta paediatrica Japonica : Overseas edition - 1 Oct 1997

Nagao M, Oyanagi K

Abstract excerpt

We describe a type of mild hypermethioninemia due to a point mutation in the MATA1 gene, which was inherited dominantly in a family. Three patients coming from the same family pedigree were detected by the presence of isolated hypermethioninemia on a mass-screening program. The measurement of methionine adenosyltransferase (MAT) activity in a patient's liver revealed a partial deficiency of hepatic MAT with a...

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Identifiers

PMID: 9363660
DOI: 10.1111/j.1442-200x.1997.tb03648.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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