21 top medical experts on Multiple Carboxylase Deficiency across 4 countries and 6 U.S. states, including 4 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Multiple Carboxylase Deficiency: A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase) due to one of two defects in biotin metabolism. The neonatal form is due to holocarboxylase synthetase deficiency. The late-onset form is due to biotinidase deficiency.
  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), Inborn Errors Carbohydrate Metabolism (1,325) and Narrower Categories: Biotinidase Deficiency (483), Holocarboxylase Synthetase Deficiency (61).
  4. Synonyms: Combined Carboxylase Deficiency


  

        

                    


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