67 top medical experts on Pyruvate Carboxylase Deficiency Disease across 11 countries and 3 U.S. states, including 5 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Pyruvate Carboxylase Deficiency Disease: An autosomal recessive metabolic disorder caused by absent or decreased pyruvate carboxylase activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic hypoglycemia, and hypotonia. The clinical course may be similar to leigh disease. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Pyruvate Metabolism (334), Inborn Metabolic Brain Diseases (1,358), Mitochondrial Diseases (3,186).
  4. Clinical Trials ClinicalTrials.gov : at least 1
  5. Synonyms: Type II Ataxia with Lactic Acidosis,  Type II Lactic Acidosis with Ataxia


  

        

                    


    Computing Expert Listing ...

);