Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Abstract

Deficiency of glucose-6-phosphate dehydrogenase enzyme is a common X-linked disorder that affects humans globally. It was first identified in the 1950s as a disorder that primarily affects the red blood cells causing a myriad of symptoms including acute haemolytic anaemia, neonatal jaundice and chronic nonspherocytic haemolytic anaemia. The deficiency has been extensively studied and especially in the last 5 years there have been improvements in the diagnosis and management. Various methods of diagnosis exist, however recent research focusses on the use of biosensors for more accurate and less time-consuming diagnosis. Guidelines suggest on controlling symptomology as there exists no specific treatment. Neonatal jaundice is a common complication of the disease and research on phototherapy has proved to show some effect in managing this condition. In the last year, protein-protein interactions have been studied and are used as a target to enhance enzyme stability and activity. AG1 is a small molecule activator that has demonstrated effectiveness in treating G6PD deficiency in models. The purpose of this review is to summarize existing literature and potential areas of research on glucose-6-phosphate dehydrogenase deficiency including clinical characteristics, diagnosis and management.

ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies

“…G6PD deficiency, an X-linked recessive condition, makes RBCs more vulnerable to oxidative stress ( Cappellini and Fiorelli, 2008 ; Frank, 2005 ; Louicharoen et al., 2009 ; Satyagraha et al., 2021 ; WHO, 2019 ). G6PD is the rate-limiting enzyme of the pentose phosphate pathway, which produces NADPH that, in turn, maintains glutathione in a reduced state, thereby protecting cells from reactive oxygen species ( Ravikumar and Greenfield, 2020 ). Unlike other cells, RBCs cannot produce NADPH by an alternative pathway because they lack functional mitochondria ( Hwang et al., 2018 ).…”

A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency

“…Hemolysis can result from oxidative damage to red blood cells [ 2 ]. Acute hemolytic anemia, neonatal jaundice, and chronic non-spherocytic hemolytic anemia are just a few of the symptoms of this illness, which predominantly affects red blood cells [ 3 ]. The three recognized trigger factors for symptomatic G6PD deficiency are (i) favism caused by fava beans, (ii) infections, and (iii) medications such as antimalarials, sulphonamides/sulphones, antibacterials, antipyretics, and analgesics.…”

Categorization of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency on the Basis of Enzyme Activity and its Clinico Haematological Correlation

“…The mutation in the G6PDX gene on the X-chromosome leads to the inherited X-linked recessive disorder, while ageing and conditions like metabolic syndrome can cause acquired deficiency. [5][6][7] Also, X-linked inheritance shows that the male population is affected mostly while the female population often remains carriers. 8 Initially, in 1950, the deficiency was found in some American soldiers who suffered haemolytic anaemia due to anti-malarial drugs.…”

“…fava beans, oxidative medications (anti-malarial agents), and viral infections, e.g., COVID-19. 6,7 The primary function of G6PD is to protect erythrocytes from oxidative stressors. G6PD status is essential as it modulates the level of reactive oxygen species by mainly producing nicotinamide adenine dinucleotide phosphate (NADPH) in the first step of the pentose phosphate pathway (PPP).…”