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), 2022. Published by Science Publishing Group |
Glucose-6-phosphate Dehydrogenase, G6PD Gene, Mutation, Mediterranean, X-linked
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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
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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 -
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