94 top medical experts on N-acetyl glutamate synthetase deficiency across 11 countries and 3 U.S. states, including 1 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. N-acetyl glutamate synthetase deficiency: A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency,  N-Acetylglutamate Synthase Deficiency,  N-Acetylglutamate Synthetase Deficiency,  NAGS Deficiency


  

        

                    


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