223 top medical experts on Lesch-Nyhan Syndrome across 30 countries and 16 U.S. states, including 48 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; hypoxanthine phosphoribosyltransferase. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
  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 Purine-Pyrimidine Metabolism (580), Inborn Metabolic Brain Diseases (1,358), X-Linked Mental Retardation (2,803).
  4. Clinical Trials ClinicalTrials.gov : at least 4 including 2 Completed
  5. Synonyms: Choreoathetosis Self-Mutilation Hyperuricemia Syndrome,  Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease


  

        

                    


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