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Anemia due to Disorder of Glutathione Metabolism

MedGen UID:
1921
•Concept ID:
C0002899
•
Disease or Syndrome

Definition

Anemia resulting from an abnormality of glutathione deficiency. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnemia due to Disorder of Glutathione Metabolism

Professional guidelines

PubMed

Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives.
Garcia AA, Koperniku A, Ferreira JCB, Mochly-Rosen D
Trends Pharmacol Sci 2021 Oct;42(10):829-844. Epub 2021 Aug 10 doi: 10.1016/j.tips.2021.07.002. PMID: 34389161Free PMC Article
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Pagano G, Talamanca AA, Castello G, Pallardó FV, Zatterale A, Degan P
Biol Chem 2012 Jan;393(1-2):11-21. doi: 10.1515/BC-2011-227. PMID: 22628295
The toxicity of benzene and its metabolism and molecular pathology in human risk assessment.
Yardley-Jones A, Anderson D, Parke DV
Br J Ind Med 1991 Jul;48(7):437-44. doi: 10.1136/oem.48.7.437. PMID: 1854646Free PMC Article

Recent clinical studies

Etiology

Maternal malnutrition and anaemia in India: dysregulations leading to the 'thin-fat' phenotype in newborns.
Pandit P, Galande S, Iris F
J Nutr Sci 2021;10:e91. Epub 2021 Oct 11 doi: 10.1017/jns.2021.83. PMID: 34733503Free PMC Article
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
Kožich V, Stabler S
J Nutr 2020 Oct 1;150(Suppl 1):2506S-2517S. doi: 10.1093/jn/nxaa134. PMID: 33000152
Dietary lipids fuel GPX4-restricted enteritis resembling Crohn's disease.
Mayr L, Grabherr F, Schwärzler J, Reitmeier I, Sommer F, Gehmacher T, Niederreiter L, He GW, Ruder B, Kunz KTR, Tymoszuk P, Hilbe R, Haschka D, Feistritzer C, Gerner RR, Enrich B, Przysiecki N, Seifert M, Keller MA, Oberhuber G, Sprung S, Ran Q, Koch R, Effenberger M, Tancevski I, Zoller H, Moschen AR, Weiss G, Becker C, Rosenstiel P, Kaser A, Tilg H, Adolph TE
Nat Commun 2020 Apr 14;11(1):1775. doi: 10.1038/s41467-020-15646-6. PMID: 32286299Free PMC Article
Glutathione synthetase deficiency.
Njålsson R
Cell Mol Life Sci 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. PMID: 15990954
The toxicity of benzene and its metabolism and molecular pathology in human risk assessment.
Yardley-Jones A, Anderson D, Parke DV
Br J Ind Med 1991 Jul;48(7):437-44. doi: 10.1136/oem.48.7.437. PMID: 1854646Free PMC Article

Diagnosis

Reduced glutathione and glutathione disulfide in the blood of glucose-6-phosphate dehydrogenase-deficient newborns.
Gong ZH, Tian GL, Huang QW, Wang YM, Xu HP
BMC Pediatr 2017 Jul 20;17(1):172. doi: 10.1186/s12887-017-0920-y. PMID: 28728551Free PMC Article
Primaquine revisited six decades after its discovery.
Vale N, Moreira R, Gomes P
Eur J Med Chem 2009 Mar;44(3):937-53. Epub 2008 Sep 11 doi: 10.1016/j.ejmech.2008.08.011. PMID: 18930565
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Glutathione synthetase deficiency.
Njålsson R
Cell Mol Life Sci 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. PMID: 15990954
The role of copper, molybdenum, selenium, and zinc in nutrition and health.
Chan S, Gerson B, Subramaniam S
Clin Lab Med 1998 Dec;18(4):673-85. PMID: 9891606

Therapy

L-glutamine for sickle cell disease: more than reducing redox.
Jafri F, Seong G, Jang T, Cimpeanu E, Poplawska M, Dutta D, Lim SH
Ann Hematol 2022 Aug;101(8):1645-1654. Epub 2022 May 14 doi: 10.1007/s00277-022-04867-y. PMID: 35568758
Dietary lipids fuel GPX4-restricted enteritis resembling Crohn's disease.
Mayr L, Grabherr F, Schwärzler J, Reitmeier I, Sommer F, Gehmacher T, Niederreiter L, He GW, Ruder B, Kunz KTR, Tymoszuk P, Hilbe R, Haschka D, Feistritzer C, Gerner RR, Enrich B, Przysiecki N, Seifert M, Keller MA, Oberhuber G, Sprung S, Ran Q, Koch R, Effenberger M, Tancevski I, Zoller H, Moschen AR, Weiss G, Becker C, Rosenstiel P, Kaser A, Tilg H, Adolph TE
Nat Commun 2020 Apr 14;11(1):1775. doi: 10.1038/s41467-020-15646-6. PMID: 32286299Free PMC Article
L-glutamine for sickle cell disease: Knight or pawn?
Sadaf A, Quinn CT
Exp Biol Med (Maywood) 2020 Jan;245(2):146-154. Epub 2020 Jan 27 doi: 10.1177/1535370219900637. PMID: 31985279Free PMC Article
Role of Zinc Supplementation on Ischemia/Reperfusion Injury in Various Organs.
Akbari G
Biol Trace Elem Res 2020 Jul;196(1):1-9. Epub 2019 Dec 11 doi: 10.1007/s12011-019-01892-3. PMID: 31828721
The toxicity of benzene and its metabolism and molecular pathology in human risk assessment.
Yardley-Jones A, Anderson D, Parke DV
Br J Ind Med 1991 Jul;48(7):437-44. doi: 10.1136/oem.48.7.437. PMID: 1854646Free PMC Article

Prognosis

GSTP1 and ABCB1 Polymorphisms Predicting Toxicities and Clinical Management on Carboplatin and Paclitaxel-Based Chemotherapy in Ovarian Cancer.
Ferracini AC, Lopes-Aguiar L, Lourenço GJ, Yoshida A, Lima CSP, Sarian LO, Derchain S, Kroetz DL, Mazzola PG
Clin Transl Sci 2021 Mar;14(2):720-728. Epub 2020 Dec 16 doi: 10.1111/cts.12937. PMID: 33326171Free PMC Article
Methods Employed in Cytofluorometric Assessment of Eryptosis, the Suicidal Erythrocyte Death.
Jemaà M, Fezai M, Bissinger R, Lang F
Cell Physiol Biochem 2017;43(2):431-444. Epub 2017 Sep 1 doi: 10.1159/000480469. PMID: 28922657
Genetic polymorphisms of glutathione-S-transferase and microsomal epoxide hydrolase in egyptian acquired aplastic anemia patients.
Youssry I, Hammoud R, Ibrahim O, Youssef M, Beshlawy A
J Pediatr Hematol Oncol 2011 Mar;33(2):89-92. doi: 10.1097/MPH.0b013e3181ff78ce. PMID: 21228718
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Oxidative stress in end-stage renal disease: an emerging threat to patient outcome.
Locatelli F, Canaud B, Eckardt KU, Stenvinkel P, Wanner C, Zoccali C
Nephrol Dial Transplant 2003 Jul;18(7):1272-80. doi: 10.1093/ndt/gfg074. PMID: 12808161

Clinical prediction guides

GSTP1 and ABCB1 Polymorphisms Predicting Toxicities and Clinical Management on Carboplatin and Paclitaxel-Based Chemotherapy in Ovarian Cancer.
Ferracini AC, Lopes-Aguiar L, Lourenço GJ, Yoshida A, Lima CSP, Sarian LO, Derchain S, Kroetz DL, Mazzola PG
Clin Transl Sci 2021 Mar;14(2):720-728. Epub 2020 Dec 16 doi: 10.1111/cts.12937. PMID: 33326171Free PMC Article
Uremia and Hypoxia Independently Induce Eryptosis and Erythrocyte Redox Imbalance.
Tozoni SS, Dias GF, Bohnen G, Grobe N, Pecoits-Filho R, Kotanko P, Moreno-Amaral AN
Cell Physiol Biochem 2019;53:794-804. doi: 10.33594/000000173. PMID: 31661199
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
The role of copper, molybdenum, selenium, and zinc in nutrition and health.
Chan S, Gerson B, Subramaniam S
Clin Lab Med 1998 Dec;18(4):673-85. PMID: 9891606
Perspectives on hydrogen peroxide and drug-induced hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency.
Hochstein P
Free Radic Biol Med 1988;5(5-6):387-92. doi: 10.1016/0891-5849(88)90112-8. PMID: 3076882

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