Condition: Hepatic methionine adenosyltransferase deficiency


rs118204003 in MAT1A gene and Hepatic methionine adenosyltransferase deficiency PMID 7560086 1995 Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

PMID 10677294 2000 Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

PMID 26289392 2015 Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

PMID 15935930 2005 Spectrum of hypermethioninemia in neonatal screening.

PMID 26933843 2016 Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

PMID 28748147 2017 Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

PMID 24445979 2014 Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.

PMID 23425511 2013 Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.

PMID 20675163 2011 Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

PMID 9042912 1997 Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.

PMID 8770875 1996 Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

PMID 28186605 2017 [Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].

PMID 18500573 2008 Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

PMID 11278456 2001 Moreover, our results provide a molecular mechanism that might explain the dominant inheritance of the hypermethioninemia associated with the R264H mutation of human MAT I/III.

PMID 9042912 1997 Cotransfection studies show that R264/R264H MAT(alpha)1 heterodimers are enzymatically inactive, thus providing an explanation for the R264H-mediated dominant inheritance of hypermethioninemia.

PMID 23430947 2012 Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.

PMID 25638462 2015 Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.