Phosphoenolpyruvate carboxykinase deficiency

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Phosphoenolpyruvate carboxykinase deficiency

Synonyms: PEPCK deficiency

A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase and comprised of cytosolic and mitochondrial 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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