59 top medical experts on Phosphoenolpyruvate carboxykinase deficiency across 9 countries and 2 U.S. states, including 2 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Phosphoenolpyruvate carboxykinase 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency,  Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency,  Phosphoenolpyruvate carboxylase deficiency,  Phosphopyruvate carboxylase deficiency


  

        

                    


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