Phosphoenolpyruvate carboxykinase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version June 2024

Newly diagnosed with
Phosphoenolpyruvate carboxykinase deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.