Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.


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… (More)


Figures and Tables

Sorry, we couldn't extract any figures or tables for this paper.

Slides referencing similar topics