Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

doi:10.1111/j.1442-200x.1997.tb03648.x

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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 met...

Topics

Adult
Aged
Amino Acid Metabolism, Inborn Errors
Child
Female
Genes, Dominant
Humans
Infant
Male
Methionine
Methionine Adenosyltransferase
Mutation

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