273 top medical experts on Inborn Urea Cycle Disorders across 37 countries and 27 U.S. states, including 136 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Inborn Urea Cycle Disorders: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, neonatal hypotonia; respiratory alkalosis; hyperammonemia; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for encephalopathies, metabolic, inborn; and respiratory alkalosis due to hyperammonemia.
  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 Amino Acid Metabolism (1,295), Inborn Metabolic Brain Diseases (1,358) and Narrower Categories: Argininosuccinic Aciduria (279), Carbamoyl-Phosphate Synthase I Deficiency Disease (199), Citrullinemia (696), Hyperargininemia (257), Ornithine Carbamoyltransferase Deficiency Disease (960).
  4. Clinical Trials ClinicalTrials.gov : at least 46 including 27 Completed, 9 Recruiting
  5. Synonyms: Inborn Urea Cycle Disorder,  Urea Cycle Disorders


  

        

                    


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