OnlineIMD

Mercaptopyruvate sulfurtransferase deficiency

  • Synonym(s)
    • Mercaptolactate-cysteine disulfiduria
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • MPST / Mercaptopyruvate Sulfurtransferase
      • 22q12.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mercaptopyruvate sulfurtransferase
  • Pathway
    • Metabolism of sulfur-containing amino acids and hydrogen sulfide
  • Disease group(s)
    • 13.4    Disorders of the metabolism of hydrogen sulfide and other sulfur-containing metabolites