29 top medical experts on 2-Methylbutyryl-CoA Dehydrogenase Deficiency across 4 countries and 1 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. 2-Methylbutyryl-CoA Dehydrogenase Deficiency: A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: 2-MBCD Deficiency,  2-Methylbutyryl Glycinuria,  2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency,  2-ethylhydracylic aciduria,  Elevated urinary 2-ethylhydracylic acid,  Elevated urinary 2-methylbutyrylglycine,  SBCADD,  Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency


  

        

                    


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