PDHX-related PDHC deficiency

Synonym(s)
- Pyruvate dehydrogenase component X deficiency,
- Pyruvate dehydrogenase E3-binding protein deficiency
Type

Disease
External link(s)
Gene
- PDHX / Pyruvate Dehydrogenase Complex Component X
  11p13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase protein X component, mitochondrial
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Parent entry
- Pyruvate dehydrogenase complex deficiency