Advanced search
Publication Cover
Fetal and Pediatric Pathology Volume 39, 2020 - Issue 1
Submit an article Journal homepage
202
Views
1
CrossRef citations to date
0
Altmetric
Case Reports

Glutathione synthetase deficiency: a novel mutation with femur agenesis

Ipek Guney VaralDivision of Neonatology, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey; Correspondence[email protected]
,
Pelin DoganDivision of Neonatology, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey;
,
Orhan GorukmezDepartment of Genetics, University of Health Sciences Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey;
,
Sevil DorumDivision of Metabolism, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey
&
Arzu AkdagDivision of Neonatology, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey;
Pages 38-44 | Received 13 Mar 2019, Accepted 20 May 2019, Published online: 14 Jun 2019

References

  • Xia H, Ye J, Wang L, Zhu J, He Z. A case of severe glutathione synthetase deficiency with novel GSS mutations. Braz J Med Biol Res. 2018;51(3):e6853.
  • Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Yang Y. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. Brain Dev. 2015;37:952–9. doi: 10.1016/j.braindev.2015.03.005.
  • Njalsson R. Glutathione synthetase deficiency. Cell Mol Life Sci. 2005;62:1938–45.
  • 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 of patients with glutathione synthetase deficiency. Clin Genet. 1999;55:444–9.
  • Pederzolli CD, Mescka CP, Zandona BR, de Moura CD, Sgaravatti AM, Sgarbi MB, de Souza Wyse AT, Duval Wannmacher CM, Wajner M, Vargas CR, et al. Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats. Metab Brain Dis. 2010;25:145–54. doi: 10.1007/s11011-010-9190-1.
  • Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis. 2007; 2:16. doi: 10.1186/1750-1172-2-16.
  • Younkin S, Oski FA, Barness LA. Mechanism of the hydrogen peroxide hemolysis test and its reversal with phenols. Am J Clin Nutr. 1997;24:7. doi: 10.1093/ajcn/24.1.7.
  • Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. Fetal Pediatr Pathol. 2015;3:18–20.
  • Armenian P, Gerona RR, Blanc PD, Wu AH, Mookherjee S. 5-oxoprolinemia causing elevated anion gap metabolic acidosis in the setting of acetaminophen use. J Emerg Med. 2012;43:54–57. doi: 10.1016/j.jemermed.2011.06.017.
  • Croal BL, Glen AC, Kelly CJ, Logan RW. Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy. Clin Chem. 1998;44:336–40.
  • Simon, E., Vogel, M., Fingerhut, R. Ristoff E, Mayatepek E, Spiekerkötter U. Diagnosis of glutathione synthetase deficiency in newborn screening. J Inherit Metab Dis. 2009;32:269. doi: 10.1007/s10545-009-1213-x.
  • Larsson A, Ristoff E, Anderson ME. Glutathione synthetase deficiency and other disorders of the gamma-glutamyl cycle. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, Childs B, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2005.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.