Mitochondrial phosphoenolpyruvate carboxykinase deficiency

(PEPCK2 deficiency)

Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- PCK2 / phosphoenolpyruvate carboxykinase 2, mitochondrial
  14q11.2-q12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoenolpyruvate carboxykinase 2, mitochondrial
Pathway
- Glycolysis and gluconeogenesis
Disease group(s)
- 3.2 Disorders of gluconeogenesis