obsolete_Phosphoenolpyruvate carboxykinase 2 deficiency true orphanet 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. MESH:C536655 PEPCK2 deficiency OMIM:261650 3.41.0 ICD10:E74.4 http://purl.obolibrary.org/obo/MONDO_0009864 Replaced with Mondo term. UMLS:C2931278