203 top medical experts on Pyruvate Dehydrogenase Complex Deficiency Disease across 21 countries and 15 U.S. states, including 37 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ataxia; seizures; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to leigh disease.
  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), X-Linked Mental Retardation (2,803).
  4. Clinical Trials ClinicalTrials.gov : at least 5 including 1 Completed, 3 Recruiting
  5. Synonyms: Type I Ataxia with Lactic Acidosis,  Type I Lactic Acidosis with Ataxia


  

        

                    


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