142 top medical experts on Glutathione synthetase deficiency across 16 countries and 6 U.S. states, including 21 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Glutathione synthetase deficiency: Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms of the deficiency may include anemia , the buildup of too much acid in the body (metabolic acidosis), frequent infections, and symptoms caused by problems in the brain including seizures , intellectual disability , and loss of coordination (ataxia).
  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: 5-oxoprolinemia,  5-oxoprolinuria,  Deficiency of Glutathione Synthase,  Deficiency of Glutathione Synthetase,  Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes,  Pyroglutamic Acidemia,  Pyroglutamic aciduria


  

        

                    


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