OnlineIMD

Pyruvate dehydrogenase complex deficiency

(PDHC deficiency)
  • Type
    Disease
  • External link(s)
    • Orphanet
  • Multimer
    • Pyruvate dehydrogenase complex

  • Pathway
    • Pyruvate metabolism and Krebs cycle
  • Associated genes
    Gene list
    • PDHA1 PDHA1-related PDHC deficiency
    • PDHX PDHX-related PDHC deficiency
    • PDHB PDHB-related PDHC deficiency
    • PDP1 PDP1-related PDHC deficiency
  • Disease group(s)
    • 5.1        Disorders of pyruvate metabolism
  • Child entries
    • PDHA1-related PDHC deficiency
    • PDHX-related PDHC deficiency
    • PDHB-related PDHC deficiency
    • PDP1-related PDHC deficiency