OnlineIMD

5.1        Disorders of pyruvate metabolism

  • Type
    Group
  • Pathway
    • Pyruvate metabolism and Krebs cycle
  • Disease group(s)
    • 5         Disorders of energy substrate metabolism
  • Child entries
    • Glutamate pyruvate transaminase 2 deficiency
    • Mitochondrial pyruvate carrier deficiency
    • Pyruvate dehydrogenase complex deficiency
    • Pyruvate carboxylase deficiency
    • Dihydrolipoamide acetyltransferase deficiency
    • Dihydrolipoamide dehydrogenase deficiency
    • Spermatogenic failure type 70
    • X-linked Charcot-Marie-Tooth type 6
    • Pyruvate dehydrogenase phosphatase regulatory subunit deficiency