Phosphoenolpyruvate carboxykinase deficiency

Definition:

Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) and mitochondrial PCK (encoded by PCK2). Mutations in PCK1 have been detected in affected individuals.

References:

[1]. Andrés Méndez-Lucas, et al. PEPCK-M expression in mouse liver potentiates, not replaces, PEPCK-C mediated gluconeogenesis. J Hepatol. 2013 Jul;59(1):105-13. [Content Brief]

[2]. Saikat Santra, et al. Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Mol Genet Metab. 2016 May;118(1):21-7. [Content Brief]

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