PDHA1-related PDHC deficiency

Synonym(s)
- X-linked PDHC deficiency,
- Pyruvate dehydrogenase E1 alpha deficiency
Type

Disease
External link(s)
Gene
- PDHA1 / Pyruvate Dehydrogenase E1 Subunit Alpha 1
  Xp22.12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase E1 component subunit alpha, mitochondrial
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Parent entry
- Pyruvate dehydrogenase complex deficiency