OnlineIMD

Methionine adenosyltransferase I/III deficiency

(MAT1A deficiency)
  • Synonym(s)
    • Mudd’s disease
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • MAT1A / Methionine Adenosyltransferase 1A
      • 10q22.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Methionine adenosyltransferase 1A
  • Pathway
    • Metabolism of sulfur-containing amino acids and hydrogen sulfide
  • Disease group(s)
    • 1.5        Disorders of the metabolism of sulfur-containing amino acids