235 top medical experts on Mevalonate Kinase Deficiency across 27 countries and 16 U.S. states, including 71 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Mevalonate Kinase Deficiency: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and mevalonic acid accumulates. It is characterized by a range of symptoms, including dysmorphic facies, psychomotor retardation, cataract, hepatosplenomegaly, cerebellar ataxia, elevated immunoglobulin D, and recurrent febrile crises with fever; lymphadenopathy; arthralgia; edema; and rash.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Hereditary Autoinflammatory Diseases (2,464), Hypergammaglobulinemia (970), Inborn Metabolic Brain Diseases (1,358), Peroxisomal Disorders (437).
  4. Clinical Trials ClinicalTrials.gov : at least 3 including 1 Completed
  5. Synonyms: Hyperimmunoglobulinemia D,  Mevalonicaciduria


  

        

                    


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