199 top medical experts on Carbamoyl-Phosphate Synthase I Deficiency Disease across 13 countries and 6 U.S. states, including 12 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Carbamoyl-Phosphate Synthase I Deficiency Disease: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial carbamoyl-phosphate synthase (ammonia). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Mitochondrial Diseases (3,186), Inborn Urea Cycle Disorders (1,187).
  4. Clinical Trials ClinicalTrials.gov : at least 4 including 2 Completed, 1 Recruiting
  5. Synonyms: CPS 1 Deficiency,  Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency),  Carbamyl-Phosphate Synthetase I Deficiency Disease,  Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency


  

        

                    


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