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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
Malik SG, Oktavianthi S, Wahlqvist ML, Asih PBS, Harahap A, Satyagraha AW, Syafruddin D
Asia Pac J Clin Nutr 2020;29(Suppl 1):S32-S40. doi: 10.6133/apjcn.202012_29(S1).04. PMID: 33377745
Harcke SJ, Rizzolo D, Harcke HT
JAAPA 2019 Nov;32(11):21-26. doi: 10.1097/01.JAA.0000586304.65429.a7. PMID: 31609781
Chu CS, Freedman DO
J Travel Med 2019 Jun 1;26(4) doi: 10.1093/jtm/taz023. PMID: 30941413Free PMC Article
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

Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
Chu CS, Freedman DO
J Travel Med 2019 Jun 1;26(4) doi: 10.1093/jtm/taz023. PMID: 30941413Free 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
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Therapy

Ashley EA, Poespoprodjo JR
Lancet Child Adolesc Health 2020 Oct;4(10):775-789. doi: 10.1016/S2352-4642(20)30127-9. PMID: 32946831
Baird JK
Clin Microbiol Rev 2019 Sep 18;32(4) Epub 2019 Jul 31 doi: 10.1128/CMR.00011-19. PMID: 31366609Free PMC Article
Chu CS, Freedman DO
J Travel Med 2019 Jun 1;26(4) doi: 10.1093/jtm/taz023. PMID: 30941413Free 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
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
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
Parnasa E, Perzon O, Klinger A, Ezkoria T, Fischer M
Isr Med Assoc J 2023 Feb;25(2):88-90. PMID: 36841974
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
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

Clinical prediction guides

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
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
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

Recent systematic reviews

Pankey AN, Chandar A, Isaacson G
Laryngoscope 2022 Jun;132(6):1300-1305. Epub 2021 Sep 21 doi: 10.1002/lary.29868. PMID: 34546579
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
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

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