title: S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency.
abstract: Glutathione synthetase deficiency is an autosomal recessive inherited metabolic defect in the gamma-glutamyl cycle. Decreased intracellular glutathione levels are one of the characteristic biochemical features. In this study we show that addition of S-acetylglutathione to the medium raised intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. This has implications for the treatment of patients with this inborn error of metabolism.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
authors.forename: J G
authors.initials: JG
authors.lastname: Okun
authors.forename: S
authors.initials: S
authors.lastname: Sauer
authors.forename: S
authors.initials: S
authors.lastname: Bähr
authors.forename: H
authors.initials: H
authors.lastname: Lenhartz
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism*; D005978:Glutathione / Q000031:analogs & derivatives* / Q000378:metabolism* / Q000494:pharmacology*; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D012867:Skin / Q000166:cytology
chemical_list: C096306:S-acetylglutathione; D005981:Glutathione Synthase; D005978:Glutathione