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G6PD deficiency

MedGen UID:
473706
Concept ID:
C2939465
Disease or Syndrome
Synonyms: G6PD A-; Glucose 6 phosphate dehydrogenase deficiency
SNOMED CT: Glucose-6-phosphate dehydrogenase deficiency (62403005); Deficiency of glucose-6-phosphate dehydrogenase (124134002); Deficiency of G-6PD (glucose-6-phosphate dehydrogenase) (124134002); G6PD - glucose-6-phosphate dehydrogenase deficiency (124134002)
 
Monarch Initiative: MONDO:0005775

Definition

An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

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
Ashley EA, Poespoprodjo JR
Lancet Child Adolesc Health 2020 Oct;4(10):775-789. doi: 10.1016/S2352-4642(20)30127-9. PMID: 32946831
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
La Vieille S, Lefebvre DE, Khalid AF, Decan MR, Godefroy S
Nutr Rev 2019 Feb 1;77(2):96-106. doi: 10.1093/nutrit/nuy053. PMID: 30380124
Youngster I, Arcavi L, Schechmaster R, Akayzen Y, Popliski H, Shimonov J, Beig S, Berkovitch M
Drug Saf 2010 Sep 1;33(9):713-26. doi: 10.2165/11536520-000000000-00000. PMID: 20701405
Bull World Health Organ 1989;67(6):601-11. PMID: 2633878Free PMC Article

Diagnosis

Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
Belfield KD, Tichy EM
Am J Health Syst Pharm 2018 Feb 1;75(3):97-104. Epub 2018 Jan 5 doi: 10.2146/ajhp160961. PMID: 29305344
Luzzatto L, Nannelli C, Notaro R
Hematol Oncol Clin North Am 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006. PMID: 27040960
Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E
Blood Cells Mol Dis 2009 May-Jun;42(3):267-78. Epub 2009 Feb 23 doi: 10.1016/j.bcmd.2008.12.005. PMID: 19233695
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Therapy

Gammal RS, Pirmohamed M, Somogyi AA, Morris SA, Formea CM, Elchynski AL, Oshikoya KA, McLeod HL, Haidar CE, Whirl-Carrillo M, Klein TE, Caudle KE, Relling MV
Clin Pharmacol Ther 2023 May;113(5):973-985. Epub 2022 Sep 24 doi: 10.1002/cpt.2735. PMID: 36049896Free PMC Article
Ashley EA, Poespoprodjo JR
Lancet Child Adolesc Health 2020 Oct;4(10):775-789. doi: 10.1016/S2352-4642(20)30127-9. PMID: 32946831
La Vieille S, Lefebvre DE, Khalid AF, Decan MR, Godefroy S
Nutr Rev 2019 Feb 1;77(2):96-106. doi: 10.1093/nutrit/nuy053. PMID: 30380124
Belfield KD, Tichy EM
Am J Health Syst Pharm 2018 Feb 1;75(3):97-104. Epub 2018 Jan 5 doi: 10.2146/ajhp160961. PMID: 29305344
Youngster I, Arcavi L, Schechmaster R, Akayzen Y, Popliski H, Shimonov J, Beig S, Berkovitch M
Drug Saf 2010 Sep 1;33(9):713-26. doi: 10.2165/11536520-000000000-00000. PMID: 20701405

Prognosis

Adissu W, Brito M, Garbin E, Macedo M, Monteiro W, Mukherjee SK, Myburg J, Alam MS, Bancone G, Bansil P, Pal S, Sharma A, Zobrist S, Bryan A, Chu CS, Das S, Domingo GJ, Hann A, Kublin J, Lacerda MVG, Layton M, Ley B, Murphy SC, Nosten F, Pereira D, Price RN, Talukdar A, Yilma D, Gerth-Guyette E
PLoS Negl Trop Dis 2023 Oct;17(10):e0011652. Epub 2023 Oct 12 doi: 10.1371/journal.pntd.0011652. PMID: 37824592Free PMC Article
Watson J, Taylor WR, Menard D, Kheng S, White NJ
Elife 2017 Feb 4;6 doi: 10.7554/eLife.23061. PMID: 28155819Free PMC Article
Liu H, Liu W, Tang X, Wang T
Pediatr Hematol Oncol 2015 Mar;32(2):92-8. Epub 2014 Mar 31 doi: 10.3109/08880018.2014.887803. PMID: 24684295
Ho NK
Baillieres Clin Haematol 1992 Jan;5(1):131-42. doi: 10.1016/s0950-3536(11)80038-7. PMID: 1596589
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180

Clinical prediction guides

Wu Y, Liao L, Lin F
J Clin Lab Anal 2021 Dec;35(12):e24034. Epub 2021 Oct 24 doi: 10.1002/jcla.24034. PMID: 34689357Free PMC Article
Liu H, Liu W, Tang X, Wang T
Pediatr Hematol Oncol 2015 Mar;32(2):92-8. Epub 2014 Mar 31 doi: 10.3109/08880018.2014.887803. PMID: 24684295
Radhakrishnan KM, Chakravarthi S, Pushkala S, Jayaraju J
Indian J Pediatr 2003 Aug;70(8):661-6. doi: 10.1007/BF02724257. PMID: 14510088
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180
Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M
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Recent systematic reviews

Chu CS, Hwang J
Expert Opin Drug Saf 2021 Mar;20(3):349-362. Epub 2021 Jan 4 doi: 10.1080/14740338.2021.1859476. PMID: 33306921Free PMC Article
Mbanefo EC, Ahmed AM, Titouna A, Elmaraezy A, Trang NT, Phuoc Long N, Hoang Anh N, Diem Nghi T, The Hung B, Van Hieu M, Ky Anh N, Huy NT, Hirayama K
Sci Rep 2017 Apr 6;7:45963. doi: 10.1038/srep45963. PMID: 28382932Free PMC Article
Lai YK, Lai NM, Lee SW
Ann Hematol 2017 May;96(5):839-845. Epub 2017 Feb 14 doi: 10.1007/s00277-017-2945-6. PMID: 28197721
Lee SW, Lai NM, Chaiyakunapruk N, Chong DW
Br J Clin Pharmacol 2017 Jan;83(1):172-179. Epub 2016 May 21 doi: 10.1111/bcp.12976. PMID: 27081765Free PMC Article
Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E
Blood Cells Mol Dis 2009 May-Jun;42(3):267-78. Epub 2009 Feb 23 doi: 10.1016/j.bcmd.2008.12.005. PMID: 19233695

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