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