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S ‐Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
Author(s) -
Okun J. G.,
Sauer S.,
Bähr S.,
Lenhartz H.,
Mayatepek E.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000045838.65498.ff
Subject(s) - glutathione , intracellular , glutathione synthetase , glutathione metabolism , metabolism , biology , biochemistry , medicine , endocrinology , chemistry , enzyme
Summary: Glutathione synthetase deficiency is an autosomal recessive inherited metabolic defect in the γ‐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.