title: Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
abstract: BACKGROUND
  Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium hydrogen carbonate treatment and long-term follow up of three patients.
  
  
  METHODS
  Urine organic acid analysis was performed with gas chromatography-mass spectrometry. Molecular genetic analysis was performed in three patients, mutation was found in two of them. Enzyme analysis was performed in one patient. Clinical and laboratory findings of four patients were evaluated.
  
  
  RESULTS
  One patient died at 4 months old, one patient's growth and development are normal, two patients have developed intellectual disability and seizures in the long term follow up period. Three patients benefited from sodium hydrogen carbonate treatment.
  
  
  CONCLUSIONS
  The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. We reported long term follow up of four patients and demonstrated that sodium hydrogen carbonate is effective for treatment of chronic metabolic acidosis in GS deficieny.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Gündüz
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Ünal
authors.forename: Sumru
authors.initials: S
authors.lastname: Kavurt
authors.forename: Emrecan
authors.initials: E
authors.lastname: Türk
authors.forename: Neslihan Önenli
authors.initials: NÖ
authors.lastname: Mungan
mesh_terms: D000138:Acidosis / Q000188:drug therapy* / Q000235:genetics / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics / Q000652:urine; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D005978:Glutathione / Q000378:metabolism*; D005981:Glutathione Synthase / Q000172:deficiency* / Q000235:genetics* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*; D017693:Sodium Bicarbonate / Q000627:therapeutic use*
chemical_list: D017693:Sodium Bicarbonate; D005981:Glutathione Synthase; D005978:Glutathione; D011761:Pyrrolidonecarboxylic Acid