Mitochondrial pyruvate carrier deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MPC1 / Mitochondrial Pyruvate Carrier 1
  6q27
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial pyruvate carrier subunit 1
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.1 Disorders of pyruvate metabolism