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Gamma-Glutamylcysteine Synthetase Deficiency
Hemolytic Anemia due to Gamma-Glutamylcysteine Synthetase Deficiency

Presentation

Individuals with hemolytic anemia can present with fatigue, pallor, irregular heartbeats, lightheadedness, and shortness of breath. Hemolytic anemia is found in all forms. [emedicine.medscape.com]

[…] synthesis is not rate-limiting for all the toxicities that arise from exposure to elevated oxygen tensions and while enhancement of GSH synthesis may prove to be a significant component of therapies for amelioration of the adverse effects of hyperoxia, the present [nature.com]

This was the reason why in the present study the enzyme activities within the parasites were rigorously established. [ncbi.nlm.nih.gov]

Workup

Microbiology

  • Trypanosoma Cruzi

    Introduction Trypanosoma cruzi is the etiological agent of human Chagas disease. [ncbi.nlm.nih.gov]

    Ckgamma-ECS 6 2019 Gamma-glutamylcysteine synthetase and tryparedoxin 1 exert high control on the antioxidant system in Trypanosoma cruzi contributing to drug resistance and infectivity. [allie.dbcls.jp]

  • Alternaria

    GS, MV, ROS, WT 18 2013 Leaf proteome profiling of transgenic mint infected with Alternaria alternata. --- 19 2012 Differential response of oxidative stress and thiol metabolism in contrasting rice genotypes for arsenic tolerance. [allie.dbcls.jp]

Treatment

Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment. Corash LM, Sheetz M, Bieri JG, Bartsocas C, Moses S, Bashan N, Schulman JD. Corash LM, et al. [pubmed.ncbi.nlm.nih.gov]

[5]; and (iii) poor medical infrastructure: less than 1% of infected people have access to diagnostics and treatment [65]. [ncbi.nlm.nih.gov]

Prognosis

The prognosis for the moderate form is intermediate. In mild glutathione synthetase deficiency, hemolytic anemia is the primary finding with apparently no effects outside of erythrocytes. Individuals with this form do well clinically. [emedicine.medscape.com]

Etiology

Introduction Trypanosoma cruzi is the etiological agent of human Chagas disease. [ncbi.nlm.nih.gov]

Epidemiology

World Health Organization Chagas disease in Latin America: an epidemiological update based on 2010 estimates. Wkly. Epidemiol. Rec. 2015;90(6):33–43. [PubMed] [Google Scholar] 2. Perez-Molina J.A., Molina I. Chagas disease. [ncbi.nlm.nih.gov]

Pathophysiology

Metabolic acidosis: pathophysiology, diagnosis and management. Nat Rev Nephrol. 2010 May. 6(5):274-85. [QxMD MEDLINE Link]. Manning NJ, Davies NP, Olpin SE, et al. Prenatal diagnosis of glutathione synthase deficiency. [emedicine.medscape.com]

Prevention

Hence, to prevent parasite resistance against this type of antichagasic drugs, γECS and TXN1 (and TryS) activities should be blocked. [ncbi.nlm.nih.gov]

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