phosphoenolpyruvate carboxykinase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/phosphoenolpyruvate_carboxykinase_deficiency NANDO:2200536 NCIT:C99015 UMLS:C0268194 icd11.foundation:1350463176 PEPCK deficiency MESH:C536654 phosphoenolpyruvate carboxykinase (GTP) deficiency MEDGEN:120618 SCTID:5335002 GARD:0016613 Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. MONDO:0017320 Orphanet:2880 ICD9:277.89 disorder of gluconeogenesis