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Xu, C. Glutathione Synthetase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4035 (accessed on 28 September 2026).
Xu C. Glutathione Synthetase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4035. Accessed September 28, 2026.
Xu, Camila. "Glutathione Synthetase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4035 (accessed September 28, 2026).
Xu, C. (2020, December 23). Glutathione Synthetase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4035
Xu, Camila. "Glutathione Synthetase Deficiency." Encyclopedia. Web. 23 December, 2020.
Glutathione Synthetase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency

Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called 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.

genetic conditions

References

  1. Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S,Ozand PT, Kambouris M. Clinical, biochemical, and molecular characterization ofpatients with glutathione synthetase deficiency. Clin Genet. 1999Jun;55(6):444-9.
  2. Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M.Hemolytic anemia and metabolic acidosis: think about glutathione synthetasedeficiency. Fetal Pediatr Pathol. 2015 Feb;34(1):18-20. doi:10.3109/15513815.2014.947543.
  3. Njålsson R, Norgren S. Physiological and pathological aspects of GSHmetabolism. Acta Paediatr. 2005 Feb;94(2):132-7. Review.
  4. Njålsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S. Genotype, enzyme activity, glutathione level, and clinical phenotype in patients withglutathione synthetase deficiency. Hum Genet. 2005 Apr;116(5):384-9.
  5. Njålsson R. Glutathione synthetase deficiency. Cell Mol Life Sci. 2005Sep;62(17):1938-45. Review.
  6. Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. OrphanetJ Rare Dis. 2007 Mar 30;2:16. Review.
  7. Wu G, Fang YZ, Yang S, Lupton JR, Turner ND. Glutathione metabolism and itsimplications for health. J Nutr. 2004 Mar;134(3):489-92. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 795
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 01 Feb 2021
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