PDP1-related PDHC deficiency

Synonym(s)
- Pyruvate dehydrogenase phosphatase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PDP1 / Pyruvate Dehydrogenase Phosphatase 1
  8q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase phosphatase catalytic subunit
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Parent entry
- Pyruvate dehydrogenase complex deficiency