150 top medical experts on Fumaric aciduria across 10 countries and 5 U.S. states, including 11 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Fumaric aciduria: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Organizations Providing General Support

  • Synonyms: Fumarase deficiency,  Fumarate Hydratase Deficiency,  Fumaricaciduria


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