Ontology highlight
ABSTRACT:
SUBMITTER: Muriello MJ
PROVIDER: S-EPMC5512230 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Muriello Michael J MJ Viall Sarah S Bottiglieri Teodoro T Cusmano-Ozog Kristina K Ferreira Carlos R CR
Molecular genetics and metabolism reports 20170715
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in <i>MAT1A</i>, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a ...[more]