Inborn errors in the metabolism of glutathione
This review discusses rare inherited disorders affecting the metabolism of glutathione, a key antioxidant involved in detoxification, redox regulation, and cellular protection. These inborn errors occur in five of the six enzymes of the gamma-glutamyl cycle and include glutathione synthetase deficiency (the most common), gamma-glutamylcysteine synthetase deficiency, gamma-glutamyl transpeptidase deficiency,
June 26, 2025
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