This article contains data on the variation in several physiological parameters of red blood cells (RBCs) donated by eligible glucose-6-phosphate dehydrogenase (G6PD) deficient donors during storage in standard blood bank conditions compared to control, G6PD sufficient (G6PD(+)) cells. Intracellular reactive oxygen species (ROS) generation, cell fragility and membrane exovesiculation were measu...

Epidermal growth factor (EGF), a mitogen for renal proximal tubule cells, activated the hexose monophosphate (HMP) shunt in renal proximal tubule cells (Stanton, R. C., and Seifter, J. L. (1988) Am. J. Physiol. 254, C267-C271). We therefore evaluated the effect of EGF on the HMP shunt enzymes glucose 6-phosphate dehydrogenase (G6PD, the rate-limiting enzyme) and 6-phosphogluconate dehydrogenase...

NADP-linked xylitol dehydrogenase has been found to be present in human red blood cells. This enzyme activity is normal in most glucose-6-phosphate dehydrogenase (G6PD)-deficient red cells. Xylitol was explored as a potential agent for treatment of hemolysis in patients with G6PD-deficiency. Intracellular GSH (glutathione, reduced) was first converted to its oxidized form by incubation of the e...

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it see...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme defect in humans, caused by a mutation X-linked gene encoding G6PD. The G6PD plays an important role to produced reducing agents which maintain reduced glutathione through pentose phosphate pathway. On ingestion of Faba Bean (Vicia faba L.), vicine and convicine are hydrolyzed β -glucosidase divicine isoura...

We report a case of new onset retinitis pigmentosa (RP) associated with a glucose-6-phosphate dehydrogenase (G6PD) deficiency in a 63-year-old African-American male who presented with worsening night vision over a period of five years. The pathogenesis of G6PD-mediated oxidative biological damage is reviewed and a mechanism for the onset of retinal disease proposed.

In this issue of Blood, Makarona et al demonstrate that histone deacetylase (HDAC) inhibitors (HDACis) in glucose-6-phosphate dehydrogenase (G6PD)-deficient cells reinstates enzyme activity by boosting gene transcription. This therapeutic approach opens new avenues for preclinical and clinical studies to treat not only chronic nonspherocytic hemolytic anemia caused by severe G6PD variants, but ...

We analyzed the molecular mutations of eight known Japanese glucose-6-phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C-->T, G6PD Asahikawa by 695 G-->A, and G6PD Kamiube by 1387 C-->T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro-->Phe) and G6PD Ka...

Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficiency is prevalent throughout tropical and subtropical regions of the world because of the protection it affords during malaria infection. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute haemolytic...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzyme deficiency in the world. The epidemiological, biochemical and molecular studies on G6PD enzyme deficiency performed over the past 50 years are summarized herein, with special emphasis on the findings of studies related to the enzyme deficiency in Turkey.