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Abnormal glucose-6-phosphate dehydrogenase level in blood

MedGen UID:
1637526
•Concept ID:
C4703663
•
Finding
Synonym: Abnormal G6PD level in blood
 
HPO: HP:0410177

Definition

An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. [from HPO]

Professional guidelines

PubMed

Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.
Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, Randhawa G, Kaur A, Prasad R
Indian J Pediatr 2010 Sep;77(9):969-73. Epub 2010 Aug 27 doi: 10.1007/s12098-010-0150-x. PMID: 20799077

Recent clinical studies

Etiology

Technical evaluation and usability of a quantitative G6PD POC test in cord blood: a mixed-methods study in a low-resource setting.
Bancone G, Gilder ME, Win E, Gornsawun G, Penpitchaporn P, Moo PK, Archasuksan L, Wai NS, Win S, Aung KK, Hashmi A, Hanboonkunupakarn B, Nosten F, Carrara VI, McGready R
BMJ Open 2022 Dec 13;12(12):e066529. doi: 10.1136/bmjopen-2022-066529. PMID: 36523222Free PMC Article
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy.
Pinna A, Solinas G, Masia C, Zinellu A, Carru C, Carta A
Invest Ophthalmol Vis Sci 2008 Apr;49(4):1328-32. doi: 10.1167/iovs.07-1115. PMID: 18385045
Glucose-6-phosphate dehydrogenase deficiency in retinal vein occlusion.
Pinna A, Carru C, Solinas G, Zinellu A, Carta F
Invest Ophthalmol Vis Sci 2007 Jun;48(6):2747-52. doi: 10.1167/iovs.06-1064. PMID: 17525208
Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia.
Schmitz G, Hohage H, Ullrich K
Eur J Pediatr 1993;152 Suppl 1:S77-84. doi: 10.1007/BF02072094. PMID: 8319730
In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.
Piomelli S, Corash LM, Davenport DD, Miraglia J, Amorosi EL
J Clin Invest 1968 Apr;47(4):940-8. doi: 10.1172/JCI105786. PMID: 5641629Free PMC Article

Diagnosis

Technical evaluation and usability of a quantitative G6PD POC test in cord blood: a mixed-methods study in a low-resource setting.
Bancone G, Gilder ME, Win E, Gornsawun G, Penpitchaporn P, Moo PK, Archasuksan L, Wai NS, Win S, Aung KK, Hashmi A, Hanboonkunupakarn B, Nosten F, Carrara VI, McGready R
BMJ Open 2022 Dec 13;12(12):e066529. doi: 10.1136/bmjopen-2022-066529. PMID: 36523222Free PMC Article
Decreased glucose-6-phosphate dehydrogenase activity along with oxidative stress affects visual contrast sensitivity in alcoholics.
Pramanik S, Ganguly U, Khemka VK, Banerjee A
Alcohol 2018 Dec;73:17-24. Epub 2018 Mar 21 doi: 10.1016/j.alcohol.2018.03.007. PMID: 30172164
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
Band 3 tyr-phosphorylation in normal and glucose-6-phospate dehydrogenase-deficient human erythrocytes.
Bordin L, Zen F, Ion-Popa F, Barbetta M, Baggio B, Clari G
Mol Membr Biol 2005 Sep-Oct;22(5):411-20. doi: 10.1080/09687860500233679. PMID: 16308275
Chemical toxicity of red cells.
Piomelli S
Environ Health Perspect 1981 Jun;39:65-70. doi: 10.1289/ehp.813965. PMID: 7016524Free PMC Article

Therapy

Technical evaluation and usability of a quantitative G6PD POC test in cord blood: a mixed-methods study in a low-resource setting.
Bancone G, Gilder ME, Win E, Gornsawun G, Penpitchaporn P, Moo PK, Archasuksan L, Wai NS, Win S, Aung KK, Hashmi A, Hanboonkunupakarn B, Nosten F, Carrara VI, McGready R
BMJ Open 2022 Dec 13;12(12):e066529. doi: 10.1136/bmjopen-2022-066529. PMID: 36523222Free PMC Article
mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.
Cao J, An D, Galduroz M, Zhuo J, Liang S, Eybye M, Frassetto A, Kuroda E, Funahashi A, Santana J, Mihai C, Benenato KE, Kumarasinghe ES, Sabnis S, Salerno T, Coughlan K, Miracco EJ, Levy B, Besin G, Schultz J, Lukacs C, Guey L, Finn P, Furukawa T, Giangrande PH, Saheki T, Martini PGV
Mol Ther 2019 Jul 3;27(7):1242-1251. Epub 2019 Apr 23 doi: 10.1016/j.ymthe.2019.04.017. PMID: 31056400Free PMC Article
Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia.
Pengon J, Svasti S, Kamchonwongpaisan S, Vattanaviboon P
Hematol Oncol Stem Cell Ther 2018 Mar;11(1):18-24. Epub 2017 Jun 15 doi: 10.1016/j.hemonc.2017.05.029. PMID: 28641093
Persistence of the benefit of an antioxidant therapy in children and teenagers with Down syndrome.
Parisotto EB, Giaretta AG, Zamoner A, Moreira EA, Fröde TS, Pedrosa RC, Filho DW
Res Dev Disabil 2015 Oct-Nov;45-46:14-20. Epub 2015 Jul 23 doi: 10.1016/j.ridd.2015.07.010. PMID: 26207872
Does Ibuprofen increase neonatal hyperbilirubinemia?
Zecca E, Romagnoli C, De Carolis MP, Costa S, Marra R, De Luca D
Pediatrics 2009 Aug;124(2):480-4. Epub 2009 Jul 20 doi: 10.1542/peds.2008-2433. PMID: 19620202

Prognosis

Screening of subclinical functional hemoglobin and red blood cell abnormalities among blood donors of Fayoum University Hospital in Egypt: Are RET-He, and IRF useful screening tools?
Bakr S, Yousief E, Ezzat EM, Elsary AY, Elamir AM, Gamal M
Transfus Apher Sci 2023 Oct;62(5):103781. Epub 2023 Jul 27 doi: 10.1016/j.transci.2023.103781. PMID: 37524581
Prevalence of glucose-6-phosphate dehydrogenase deficiency and its association with Plasmodium falciparum infection among children in Iganga distric in Uganda.
Bwayo D, Kaddumukasa M, Ddungu H, Kironde F
BMC Res Notes 2014 Jun 18;7:372. doi: 10.1186/1756-0500-7-372. PMID: 24943486Free PMC Article
Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.
Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, Randhawa G, Kaur A, Prasad R
Indian J Pediatr 2010 Sep;77(9):969-73. Epub 2010 Aug 27 doi: 10.1007/s12098-010-0150-x. PMID: 20799077
Leukocyte glucose 6 phosphate dehydrogenase as prognostic indicator in ANLL and CML.
Devi GS, Prasad MH, Reddy PP, Rao DN
Indian J Exp Biol 1997 Feb;35(2):155-8. PMID: 9315224
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria.
Nafa K, Reghis A, Osmani N, Baghli L, Aït-Abbes H, Benabadji M, Kaplan JC, Vulliamy T, Luzzatto L
Hum Genet 1994 Nov;94(5):513-7. doi: 10.1007/BF00211017. PMID: 7959686

Clinical prediction guides

Decreased glucose-6-phosphate dehydrogenase activity along with oxidative stress affects visual contrast sensitivity in alcoholics.
Pramanik S, Ganguly U, Khemka VK, Banerjee A
Alcohol 2018 Dec;73:17-24. Epub 2018 Mar 21 doi: 10.1016/j.alcohol.2018.03.007. PMID: 30172164
Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia.
Pengon J, Svasti S, Kamchonwongpaisan S, Vattanaviboon P
Hematol Oncol Stem Cell Ther 2018 Mar;11(1):18-24. Epub 2017 Jun 15 doi: 10.1016/j.hemonc.2017.05.029. PMID: 28641093
Glucose-6-phosphatedehydrogenase is also increased in erythrocytes from adolescents with Down syndrome.
Ordonez FJ, Rosety-Plaza M, Rosety-Rodriguez M
Downs Syndr Res Pract 2006 Sep;11(2):84-7. doi: 10.3104/reports.318. PMID: 17048802
Chemical toxicity of red cells.
Piomelli S
Environ Health Perspect 1981 Jun;39:65-70. doi: 10.1289/ehp.813965. PMID: 7016524Free PMC Article
Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity.
Cooper MR, DeChatelet LR, McCall CE, LaVia MF, Spurr CL, Baehner RL
J Clin Invest 1972 Apr;51(4):769-78. doi: 10.1172/JCI106871. PMID: 4401271Free PMC Article

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