Glutathione synthetase deficiency

Glutathione synthetase deficiency
Glutathione synthetase deficiency
Other names	Pyroglutamicaciduria, 5-Oxoprolinuria, Oxoprolinase deficiency, Pyroglutamic aciduria
	Glutathione

Glutathione synthetase deficiency (GSD) is a rare autosomal recessive^[1] metabolic disorder that prevents the production of glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.

^ Njålsson, Runa; Ristoff, Ellinor; Carlsson, Katarina; Winkler, Andreas; Larsson, Agne; Norgren, Svante (2005). "Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency". Human Genetics. 116 (5): 384–9. doi:10.1007/s00439-005-1255-6. PMID 15717202. S2CID 19707969.

[1] Njålsson, Runa; Ristoff, Ellinor; Carlsson, Katarina; Winkler, Andreas; Larsson, Agne; Norgren, Svante (2005). "Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency". Human Genetics. 116 (5): 384–9. doi:10.1007/s00439-005-1255-6. PMID 15717202. S2CID 19707969.

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