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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
Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.
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
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

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
Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.
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
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

Therapy

Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.
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
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

Clinical performance validation of the STANDARD G6PD test: A multi-country pooled analysis.
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
G6PD deficiency-does it alter the course of COVID-19 infections?
Au TY, Wiśniewski OW, Benjamin S, Kubicki T, Dytfeld D, Gil L
Ann Hematol 2023 Jul;102(7):1629-1636. Epub 2023 Mar 11 doi: 10.1007/s00277-023-05164-y. PMID: 36905446Free PMC Article
Incorporating G6PD genotyping to identify patients with G6PD deficiency.
Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE
Pharmacogenet Genomics 2022 Apr 1;32(3):87-93. doi: 10.1097/FPC.0000000000000456. PMID: 34693927Free PMC Article
Association between G6PD deficiency and hyperbilirubinemia in neonates: a meta-analysis.
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
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

Glucose-6-phosphate dehydrogenase deficiency and long-term risk of immune-related disorders.
Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E
Front Immunol 2023;14:1232560. Epub 2023 Sep 11 doi: 10.3389/fimmu.2023.1232560. PMID: 37753082Free PMC Article
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
Association between G6PD deficiency and hyperbilirubinemia in neonates: a meta-analysis.
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
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

Recent systematic reviews

Glucose-6-phosphate dehydrogenase deficiency and psychotic disorders: A systematic review.
Gandar C, Scott JG, Warren N
World J Biol Psychiatry 2024 Feb;25(2):151-159. Epub 2024 Jan 31 doi: 10.1080/15622975.2023.2290563. PMID: 38044502
Safety of Ibuprofen in Children With G6PD Deficiency: A Systematic Review.
Pankey AN, Chandar A, Isaacson G
Laryngoscope 2022 Jun;132(6):1300-1305. Epub 2021 Sep 21 doi: 10.1002/lary.29868. PMID: 34546579
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
Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis.
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
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

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