270 top medical experts on Propionic Acidemia across 36 countries and 27 U.S. states, including 109 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in propionyl-COA carboxylase genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, hyperglycemia, lethargy, vomiting, hypotonia; and hepatomegaly. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
  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 Amino Acid Metabolism (1,295).
  4. Clinical Trials ClinicalTrials.gov : at least 17 including 4 Completed, 9 Recruiting
  5. Synonyms: Ketotic Glycinemia,  Ketotic Glycinemia,  Ketotic Hyperglycinemia,  PCC Deficiency,  Propionicacidemia,  Propionyl-CoA Carboxylase Deficiency


  

        

                    


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