85 top medical experts on Isobutyryl-CoA dehydrogenase deficiency across 6 countries and 3 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. Isobutyryl-CoA dehydrogenase deficiency: Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
  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: deficiency of member 8 Acyl-CoA dehydrogenase family,  Isobutyryl-Coenzyme A Dehydrogenase Deficiency


  

        

                    


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