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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

Israel A, Berkovitch M, Merzon E, Golan-Cohen A, Green I, Ruppin E, Vinker S, Magen E
Clin Infect Dis 2023 Oct 5;77(7):972-975. doi: 10.1093/cid/ciad348. PMID: 37282346Free PMC Article
Beretta A, Manuelli M, Cena H
Nutrients 2023 Jan 10;15(2) doi: 10.3390/nu15020343. PMID: 36678214Free PMC Article
Arai Y
J Atheroscler Thromb 2021 Jun 1;28(6):586-587. Epub 2020 Dec 23 doi: 10.5551/jat.ED152. PMID: 33361648Free 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
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

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
Arai Y
J Atheroscler Thromb 2021 Jun 1;28(6):586-587. Epub 2020 Dec 23 doi: 10.5551/jat.ED152. PMID: 33361648Free PMC Article
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
Lokeshwar MR, Dalal R, Manglani M, Shah N
Indian J Pediatr 1998 Sep-Oct;65(5):651-61. doi: 10.1007/BF02731037. PMID: 10773920

Therapy

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
Fadah K, Rivera M, Lingireddy A, Kalas MA, Ghafouri RS, Deoker A
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221117919. doi: 10.1177/23247096221117919. PMID: 35959982Free PMC Article
Marik PE
Crit Care 2019 Apr 3;23(1):109. doi: 10.1186/s13054-019-2397-6. PMID: 30944032Free 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
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

Fadah K, Rivera M, Lingireddy A, Kalas MA, Ghafouri RS, Deoker A
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221117919. doi: 10.1177/23247096221117919. PMID: 35959982Free PMC Article
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
Watson J, Taylor WR, Menard D, Kheng S, White NJ
Elife 2017 Feb 4;6 doi: 10.7554/eLife.23061. PMID: 28155819Free PMC Article
Gupta V, Shukla J, Bhatia BD
Indian J Pediatr 2008 May;75(5):451-4. Epub 2008 Jun 8 doi: 10.1007/s12098-008-0071-0. PMID: 18537006
Nagel RL, Steinberg MH
Pediatr Pathol Mol Med 2001 Mar-Apr;20(2):123-36. PMID: 12673837

Clinical prediction guides

Mohammed Iqbal C, Ashraf T, Buckley AJ
Diabetes Res Clin Pract 2023 Sep;203:110873. Epub 2023 Aug 12 doi: 10.1016/j.diabres.2023.110873. PMID: 37574136
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
Watson J, Taylor WR, Menard D, Kheng S, White NJ
Elife 2017 Feb 4;6 doi: 10.7554/eLife.23061. PMID: 28155819Free PMC Article
Seow N, Lai PS, Yung LY
Anal Biochem 2014 Apr 15;451:56-62. Epub 2014 Feb 1 doi: 10.1016/j.ab.2014.01.014. PMID: 24491445
Nagel RL, Steinberg MH
Pediatr Pathol Mol Med 2001 Mar-Apr;20(2):123-36. PMID: 12673837

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
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
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
Rodrigo C, Rajapakse S, Fernando SD
Trans R Soc Trop Med Hyg 2019 Oct 11;113(10):579-586. doi: 10.1093/trstmh/trz052. PMID: 31225623
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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