Condition: Phosphoenolpyruvate carboxykinase deficiency


rs201186470 in PCK1 gene and Phosphoenolpyruvate carboxykinase deficiency PMID 24863970 2014 Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PMID 28216384 2017 Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

PMID 26971250 2016 Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.