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Phosphoenolpyruvate carboxykinase 2 deficiency

Synonym(s) PEPCK2 deficiency
Prevalence -
Inheritance -
Age of onset -
  • E74.4
  • C2931278
  • C536655
MedDRA -


Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema.

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