Glucose-6-phosphate-dehydrogenase deficiency - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited (X-linked) enzyme deficiency that is common among populations originating from parts of the world where malaria is or was common: that is, sub-Saharan Africa, Asia, the Mediterranean region, and the Middle East.
Most patients are asymptomatic.
Most common manifestations are prolonged or severe neonatal jaundice and hemolytic anemia in association with infection or following consumption of broad beans or certain drugs.
Diagnosis is made from blood tests including smear review and the specific enzyme assay.
Patients should be advised to avoid precipitant factors, especially oxidative drugs and broad beans.

Quick Reference

History & Exam
- Key Factors
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Diagnostics Tests
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Treatment Options
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Definition

Epidemiology

Etiology

Pathophysiology

Images

Role of glucose-6-phosphate dehydrogenase in the pentose phosphate pathway resulting in the generation of reduced nicotinamide adenine dinucleotide phosphate (NADPH) and reduced glutathione (GSH), products required to protect the red blood cell from oxidative stress
Drugs and agents that are known to cause hemolysis in people with G6PD deficiency

Citations

Key Articles

WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-11.[Abstract]
Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74.[Abstract]
Roper D, Layton M, Rees D, et al. Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline. Br J Haematol. 2020 Apr;189(1):24-38.[Abstract][Full Text]
Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93.[Abstract]
World Health Organization. Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure. Jul 2018 [internet publication].[Full Text]

Other Online Resources

CDC: ACIP vaccine recommendations and guidelines
NORD: Glucose-6-phosphate dehydrogenase deficiency

Referenced Articles

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