Cytosolic phosphoenolpyruvate carboxykinase deficiency

(PEPCK deficiency)

Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- PCK1 / Phosphoenolpyruvate Carboxykinase 1
  20q13.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoenolpyruvate carboxykinase, cytosolic [soluble]
Pathway
- Glycolysis and gluconeogenesis
Disease group(s)
- 3.2 Disorders of gluconeogenesis