Phosphoglycerate kinase deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PGK1 / Phosphoglycerate Kinase 1
  Xq21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoglycerate kinase 1
Pathway
- Glycolysis and gluconeogenesis
Disease group(s)
- 3.3 Disorders of glycolysis