OnlineIMD

Succinyl-CoA:3-oxoacid-CoA transferase deficiency

(SCOT deficiency)
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • OXCT1 / 3-oxoacid CoA transferase 1
      • 5p13.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • 3-oxoacid CoA transferase 1, mitochondrial
  • Pathway
    • Ketone body metabolism
  • Disease group(s)
    • 4.3        Disorders of ketone body metabolism