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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVG6PD deficiency

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
Treatment and prevention of malaria in children.
Ashley EA, Poespoprodjo JR
Lancet Child Adolesc Health 2020 Oct;4(10):775-789. doi: 10.1016/S2352-4642(20)30127-9. PMID: 32946831
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

Favism: Clinical Features at Different Ages.
Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
G6PD deficiency: An update.
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
Dietary restrictions for people with glucose-6-phosphate dehydrogenase deficiency.
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
Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.
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
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.
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

Diagnosis

Favism: Clinical Features at Different Ages.
Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.
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
Glucose-6-Phosphate Dehydrogenase Deficiency.
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
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031
G6PD deficiency.
Beutler E
Blood 1994 Dec 1;84(11):3613-36. PMID: 7949118

Therapy

A Journey from Blood Cells to Genes and Back.
Luzzatto L
Annu Rev Genomics Hum Genet 2023 Aug 25;24:1-33. Epub 2023 May 22 doi: 10.1146/annurev-genom-101022-105018. PMID: 37217201
Treatment and prevention of malaria in children.
Ashley EA, Poespoprodjo JR
Lancet Child Adolesc Health 2020 Oct;4(10):775-789. doi: 10.1016/S2352-4642(20)30127-9. PMID: 32946831
Dietary restrictions for people with glucose-6-phosphate dehydrogenase deficiency.
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
Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.
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
Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.
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

Tafenoquine for the prophylaxis, treatment and elimination of malaria: eagerness must meet prudence.
Val F, Costa FT, King L, Brito-Sousa JD, Bassat Q, Monteiro WM, Siqueira AM, Luzzatto L, Lacerda MV
Future Microbiol 2019 Oct;14:1261-1279. Epub 2019 Oct 9 doi: 10.2217/fmb-2019-0202. PMID: 31596137
Modelling primaquine-induced haemolysis in G6PD deficiency.
Watson J, Taylor WR, Menard D, Kheng S, White NJ
Elife 2017 Feb 4;6 doi: 10.7554/eLife.23061. PMID: 28155819Free PMC Article
A novel link between G6PD deficiency and hemolysis in patients with continuous-flow left ventricular assist devices.
Alhosaini H, Jensen BC, Chang PP, Sheridan BC, Katz JN
J Heart Lung Transplant 2014 Jan;33(1):116-7. Epub 2013 Oct 25 doi: 10.1016/j.healun.2013.10.028. PMID: 24290168
Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.
Nagel RL, Steinberg MH
Pediatr Pathol Mol Med 2001 Mar-Apr;20(2):123-36. PMID: 12673837
Glucose-6-phosphate dehydrogenase deficiency.
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180

Clinical prediction guides

The diagnostic protocol for hereditary spherocytosis-2021 update.
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
Modelling primaquine-induced haemolysis in G6PD deficiency.
Watson J, Taylor WR, Menard D, Kheng S, White NJ
Elife 2017 Feb 4;6 doi: 10.7554/eLife.23061. PMID: 28155819Free PMC Article
Component therapy.
Radhakrishnan KM, Chakravarthi S, Pushkala S, Jayaraju J
Indian J Pediatr 2003 Aug;70(8):661-6. doi: 10.1007/BF02724257. PMID: 14510088
Glucose-6-phosphate dehydrogenase deficiency.
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M
Proc Natl Acad Sci U S A 1988 Jul;85(14):5171-5. doi: 10.1073/pnas.85.14.5171. PMID: 3393536Free PMC Article

Recent systematic reviews

Prevalence of G6PD deficiency in Iranian neonates with jaundice: a systematic review and meta-analysis.
Javadi M, Deravi S, Zarei S, Mahdavi N, Ranjbaran M
J Matern Fetal Neonatal Med 2022 Dec;35(25):5813-5820. Epub 2021 Mar 15 doi: 10.1080/14767058.2021.1895738. PMID: 33722175
Tafenoquine: a toxicity overview.
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
Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline.
Roper D, Layton M, Rees D, Lambert C, Vulliamy T, De la Salle B, D'Souza C; British Society for Haematology
Br J Haematol 2020 Apr;189(1):24-38. Epub 2020 Jan 28 doi: 10.1111/bjh.16366. PMID: 31991476
Glucose-6-phosphate dehydrogenase deficiency and risk of diabetes: a systematic review and meta-analysis.
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
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.
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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    Reviews

    Related information

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      Clinical tests in GTR
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