Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency which leading to substantial morbidity and mortality in children. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in cytoplasm, coded by X-linked gene. G6PD catalyzes the initial step in hexose monophosphate shunt, which is a rate limiting reaction. This shunt helps in producing NADPH (Nicotinamide adenine dinucleotide phosphate), a reducing equivalent that helps glutathione reductase to regenerate reduced glutathione (GSH). Due to its crucial role in defence against oxidizing species, it is perceived that any mutation in G6PD encoding gene can affect enzyme’s structural and functional integrity leading to malfunctioning of enzyme. G6PD deficiency is a highly prevalent genetic disorder which is transmitted as X–linked recessive pattern. Nearly 210 variants have been reported all over the world. In India, G6PD deficiency is a significant public health problem. It is an important cause for drug induced hemolysis in children. G6PD gene variants are often named as per the geographical area where they were first discovered. In India Mediterranean, Orissa, Jammu, Andhra Pradesh, Kalyan-Kerala and G6PD West Bengal are frequently seen. G6PD Mediterranean leads to severe deficiency when compared to others. Worldwide highest preponderance of g6PD deficiency is seen in African sub Saharan region and Arabian Peninsula.
| Published in | International Journal of Biomedical Science and Engineering (Volume 10, Issue 2) |
| DOI | 10.11648/j.ijbse.20221002.12 |
| Page(s) | 44-49 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Glucose-6-phosphate Dehydrogenase, G6PD Gene, Mutation, Mediterranean, X-linked
| [1] | Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet 2002; 5: 192-196. |
| [2] | Agrawal SK, Kumar P, Rathi R, Sharma N, Das R, Prasad R, Narang A. UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia. Pediatr Res. 2009 Jun; 65 (6): 675-80. doi: 10.1203/PDR.0b013e31819ed5de. PMID: 19430380. |
| [3] | Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, Serrano-Posada H, Ortega-Cuellar D, González-Valdez A, et al. Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World. Int J Mol Sci. 2016; 17 (12). |
| [4] | Sarker SK, Islam MT, Eckhoff G, Hossain MA, Qadri SK, Muraduzzaman AK, et al. Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. PLoS One. 2016; 11 (11): e0166977. |
| [5] | Peters AL, Van Noorden CJ. Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. J Histochem Cytochem. 2009; 57 (11): 1003-11. |
| [6] | Au SW, Gover S, Lam VM, Adams MJ. Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP (+) molecule and provides insights into enzyme deficiency. Structure. 2000; 8 (3): 293-303. |
| [7] | Kotaka M, Gover S, Vandeputte-Rutten L, Au SW, Lam VM, Adams MJ. Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase. Acta Crystallogr D Biol Crystallogr. 2005; 61 (Pt 5): 495-504. |
| [8] | Hwang S, Mruk K, Rahighi S, Raub AG, Chen CH, Dorn LE, et al. Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator. Nat Commun. 2018; 9 (1): 4045. |
| [9] | Cortés-Morales YY, Vanoye-Carlo A, Castillo-Rodríguez RA, Serrano-Posada H, González-Valdez A, Ortega-Cuellar D, et al. Cloning and biochemical characterization of three glucose-6-phosphate dehydrogenase mutants presents in the Mexican population. Int J Biol Macromol. 2018; 119: 926-36. |
| [10] | Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. 2009; 42 (3): 267-78. |
| [11] | Howes RE, Piel FB, Patil AP, Nyangiri OA, Gething PW, Dewi M, et al. G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map. PLoS Med. 2012; 9 (11): e1001339. |
| [12] | Monteiro WM, Val FF, Siqueira AM, Franca GP, Sampaio VS, Melo GC, et al. G6PD deficiency in Latin America: systematic review on prevalence and variants. Mem Inst Oswaldo Cruz. 2014; 109 (5): 553-68. |
| [13] | Inaugural meeting of the malaria policy advisory committee to the WHO: conclusions and recommendations. Malar J. 2012; 11: 137. |
| [14] | Mockenhaupt FP, Mandelkow J, Till H, Ehrhardt S, Eggelte TA, Bienzle U. Reduced prevalence of Plasmodium falciparum infection and of concomitant anaemia in pregnant women with heterozygous G6PD deficiency. Trop Med International Health. 2003; 8 (2): 118-24. |
| [15] | Clark TG, Fry AE, Auburn S, Campino S, Diakite M, Green A, et al. Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. Eur J Hum Genet. 2009; 17 (8): 1080-5. |
| [16] | Leslie T, Briceño M, Mayan I, Mohammed N, Klinkenberg E, Sibley CH, et al. The impact of phenotypic and genotypic G6PD deficiency on risk of Plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. PLoS Med. 2010; 7 (5): e1000283. |
| [17] | Santana MS, de Lacerda MVG, Barbosa MdGV, Alecrim WD, Alecrim MdGC. Glucose-6-phosphate dehydrogenase deficiency in an endemic area for malaria in Manaus: a cross-sectional survey in the Brazilian Amazon. PloS one. 2009; 4 (4): e5259. |
| [18] | Ruwende C, Khoo S, Snow R, Yates S, Kwiatkowski D, Gupta S, et al. Natural selection of hemi-and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995; 376 (6537): 246-9. |
| [19] | YoshidA A, Beutler E, Motulsky AG. Human glucose-6-phosphate dehydrogenase variants. Bulletin of the World Health Organization. 1971; 45 (2): 243. |
| [20] | Luzzatto L, Nannelli C, Notaro R. Glucose-6-Phosphate Dehydrogenase Deficiency. Hematol Oncol Clin North Am. 2016; 30 (2): 373-93. |
| [21] | Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. The lancet. 2008; 371 (9606): 64-74. |
| [22] | Beutler E. G6PD deficiency. Blood. 1994; 84 (11): 3613-36. |
| [23] | Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World Health Organ. 1989; 67 (6): 601-11. |
| [24] | Mehta A, Mason PJ, Vulliamy TJ. Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Pract Res Clin Haematol. 2000 Mar; 13 (1): 21-38. doi: 10.1053/beha.1999.0055. PMID: 10916676. |
| [25] | Yang HC, Ma TH, Tjong WY, Stern A, Chiu DT. G6PD deficiency, redox homeostasis, and viral infections: implications for SARS-CoV-2 (COVID-19). Free Radic Res. 2021 Apr; 55 (4): 364-374. doi: 10.1080/10715762.2020.1866757. Epub 2021 Jan 6. PMID: 33401987; PMCID: PMC7799378. |
| [26] | Palmer K, Dick J, French W, Floro L, Ford M. Methemoglobinemia in Patient with G6PD Deficiency and SARS-CoV-2 Infection. Emerg Infect Dis. 2020 Sep; 26 (9): 2279–81. doi: 10.3201/eid2609.202353. Epub 2020 Jun 24. PMID: 32579876; PMCID: PMC7454064. |
| [27] | Nabavi SF, Habtemariam S, Sureda A, Banach M, Berindan-Neagoe I, Cismaru CA, Bagheri M, Bagheri MS, Nabavi SM. Glucose-6-phosphate dehydrogenase deficiency and SARS-CoV-2 mortality: Is there a link and what should we do? Clin Biochem. 2020 Dec; 86: 31-33. doi: 10.1016/j.clinbiochem.2020.09.004. Epub 2020 Sep 17. PMID: 32950470; PMCID: PMC7497541. |
| [28] | Youssef JG, Zahiruddin F, Youssef G, Padmanabhan S, Ensor J, Pingali SR, Zu Y, Sahay S, Iyer SP. G6PD deficiency and severity of COVID-19 pneumonia and acute respiratory distress syndrome: tip of the iceberg? Ann Hematol. 2021 Mar; 100 (3): 667-673. doi: 10.1007/s00277-021-04395-1. Epub 2021 Jan 13. PMID: 33439304; PMCID: PMC7804896. |
| [29] | Satyagraha AW, Sadhewa A, Elvira R, Elyazar I, Feriandika D, Antonjaya U, et al. Assessment of point-of-care diagnostics for G6PD deficiency in malaria endemic rural Eastern Indonesia. PLoS neglected tropical diseases. 2016; 10 (2): e0004457. |
| [30] | Ley, B., Luter, N., Espino, F. E. et al. The challenges of introducing routine G6PD testing into radical cure: a workshop report. Malar J 14, 377 (2015). https://doi.org/10.1186/s12936-015-0896-8 |
| [31] | Kim S, Nguon C, Guillard B, Duong S, Chy S, Sum S, et al. Performance of the CareStart™ G6PD deficiency screening test, a point-of-care diagnostic for primaquine therapy screening. PloS one. 2011; 6 (12): e28357. |
| [32] | Belfield KD, Tichy EM. Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency. The Bulletin of the American Society of Hospital Pharmacists. 2018; 75 (3): 97-104. |
| [33] | Peters AL, Veldthuis M, van Leeuwen K, Bossuyt PM, Vlaar AP, van Bruggen R, et al. Comparison of spectrophotometry, chromate inhibition, and cytofluorometry versus gene sequencing for detection of heterozygously glucose-6-phosphate dehydrogenase-deficient females. Journal of Histochemistry & Cytochemistry. 2017; 65 (11): 627-36. |
| [34] | Bancone G, Chu CS, Somsakchaicharoen R, Chowwiwat N, Parker DM, Charunwatthana P, et al. Characterization of G6PD genotypes and phenotypes on the northwestern Thailand-Myanmar border. PloS one. 2014; 9 (12): e116063. |
| [35] | Shah SS, Diakite SA, Traore K, Diakite M, Kwiatkowski DP, Rockett KA, et al. A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency. Scientific reports. 2012; 2: 299. |
| [36] | Hsu J, Fink D, Langer E, Carter ML, Bengo D, Ndidde S, et al. PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood. Pediatr Hematol Oncol. 2014; 31 (1): 68-75. |
| [37] | Minucci A, Moradkhani K, Hwang MJ, Zuppi C, Giardina B, Capoluongo E. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the “old” and update of the new mutations. Blood Cells Mol Dis. 2012; 48 (3): 154–65. doi: 10.1016/j.bcmd.2012.01.001 PMID: 22293322. |
| [38] | Bogari NM. Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies. Bioinformation. 2016; 12 (2): 41. |
| [39] | Schweiger MR, Kerick M, Timmermann B, Isau M. The power of NGS technologies to delineate the genome organization in cancer: from mutations to structural variations and epigenetic alterations. Cancer and Metastasis Reviews. 2011; 30 (2): 199-210. |
| [40] | Gullapalli RR, Desai KV, Santana-Santos L, Kant JA, Becich MJ. Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics. J Pathol Inform. 2012; 3: 40. |
| [41] | Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007; 21 (5): 267-83. |
| [42] | Tripathy V, Reddy B M. Present status of understanding on the G6PD deficiency and natural selection. J Postgrad Med 2007; 53: 193-202. |
| [43] | Sukumar S, Mukherjee MB, Colah RB, Mohanty D. Molecular characterization of G6PD Insuli--a novel 989 CGC --> CAC (330 Arg --> His) mutation in the Indian population. Blood Cells Mol Dis. 2003 May-Jun; 30 (3): 246-7. doi: 10.1016/s1079-9796(03)00018-4. PMID: 12737940. |
APA Style
Yatika Chaudhary, Rahul Bhakat, Swathi Chacham, Swati Rajput, Prashant Kumar Verma, et al. (2022). A Brief Narrative Review of Glucose 6-phosphate Dehydrogenase Deficiency in Children and Its Genetic Variants. International Journal of Biomedical Science and Engineering, 10(2), 44-49. https://doi.org/10.11648/j.ijbse.20221002.12
ACS Style
Yatika Chaudhary; Rahul Bhakat; Swathi Chacham; Swati Rajput; Prashant Kumar Verma, et al. A Brief Narrative Review of Glucose 6-phosphate Dehydrogenase Deficiency in Children and Its Genetic Variants. Int. J. Biomed. Sci. Eng. 2022, 10(2), 44-49. doi: 10.11648/j.ijbse.20221002.12
AMA Style
Yatika Chaudhary, Rahul Bhakat, Swathi Chacham, Swati Rajput, Prashant Kumar Verma, et al. A Brief Narrative Review of Glucose 6-phosphate Dehydrogenase Deficiency in Children and Its Genetic Variants. Int J Biomed Sci Eng. 2022;10(2):44-49. doi: 10.11648/j.ijbse.20221002.12
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.ijbse.20221002.12,
author = {Yatika Chaudhary and Rahul Bhakat and Swathi Chacham and Swati Rajput and Prashant Kumar Verma and Kriti Mohan and Manisha Naithani},
title = {A Brief Narrative Review of Glucose 6-phosphate Dehydrogenase Deficiency in Children and Its Genetic Variants},
journal = {International Journal of Biomedical Science and Engineering},
volume = {10},
number = {2},
pages = {44-49},
doi = {10.11648/j.ijbse.20221002.12},
url = {https://doi.org/10.11648/j.ijbse.20221002.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijbse.20221002.12},
abstract = {Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency which leading to substantial morbidity and mortality in children. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in cytoplasm, coded by X-linked gene. G6PD catalyzes the initial step in hexose monophosphate shunt, which is a rate limiting reaction. This shunt helps in producing NADPH (Nicotinamide adenine dinucleotide phosphate), a reducing equivalent that helps glutathione reductase to regenerate reduced glutathione (GSH). Due to its crucial role in defence against oxidizing species, it is perceived that any mutation in G6PD encoding gene can affect enzyme’s structural and functional integrity leading to malfunctioning of enzyme. G6PD deficiency is a highly prevalent genetic disorder which is transmitted as X–linked recessive pattern. Nearly 210 variants have been reported all over the world. In India, G6PD deficiency is a significant public health problem. It is an important cause for drug induced hemolysis in children. G6PD gene variants are often named as per the geographical area where they were first discovered. In India Mediterranean, Orissa, Jammu, Andhra Pradesh, Kalyan-Kerala and G6PD West Bengal are frequently seen. G6PD Mediterranean leads to severe deficiency when compared to others. Worldwide highest preponderance of g6PD deficiency is seen in African sub Saharan region and Arabian Peninsula.},
year = {2022}
}
TY - JOUR T1 - A Brief Narrative Review of Glucose 6-phosphate Dehydrogenase Deficiency in Children and Its Genetic Variants AU - Yatika Chaudhary AU - Rahul Bhakat AU - Swathi Chacham AU - Swati Rajput AU - Prashant Kumar Verma AU - Kriti Mohan AU - Manisha Naithani Y1 - 2022/05/10 PY - 2022 N1 - https://doi.org/10.11648/j.ijbse.20221002.12 DO - 10.11648/j.ijbse.20221002.12 T2 - International Journal of Biomedical Science and Engineering JF - International Journal of Biomedical Science and Engineering JO - International Journal of Biomedical Science and Engineering SP - 44 EP - 49 PB - Science Publishing Group SN - 2376-7235 UR - https://doi.org/10.11648/j.ijbse.20221002.12 AB - Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency which leading to substantial morbidity and mortality in children. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in cytoplasm, coded by X-linked gene. G6PD catalyzes the initial step in hexose monophosphate shunt, which is a rate limiting reaction. This shunt helps in producing NADPH (Nicotinamide adenine dinucleotide phosphate), a reducing equivalent that helps glutathione reductase to regenerate reduced glutathione (GSH). Due to its crucial role in defence against oxidizing species, it is perceived that any mutation in G6PD encoding gene can affect enzyme’s structural and functional integrity leading to malfunctioning of enzyme. G6PD deficiency is a highly prevalent genetic disorder which is transmitted as X–linked recessive pattern. Nearly 210 variants have been reported all over the world. In India, G6PD deficiency is a significant public health problem. It is an important cause for drug induced hemolysis in children. G6PD gene variants are often named as per the geographical area where they were first discovered. In India Mediterranean, Orissa, Jammu, Andhra Pradesh, Kalyan-Kerala and G6PD West Bengal are frequently seen. G6PD Mediterranean leads to severe deficiency when compared to others. Worldwide highest preponderance of g6PD deficiency is seen in African sub Saharan region and Arabian Peninsula. VL - 10 IS - 2 ER -
Email: