OBJECTIVE To investigate 4 combinations of mutations responsible for glucose-6-phosphate dehydrogenase (G6PD) deficiency in a rural community of Burkina Faso, a malaria endemic country. METHODS Two hundred individuals in a rural community were genotyped for the mutations A376G, G202A, A542T, G680T and T968C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction follo...

glucose-6-phosphate dehydrogenase (g6pd) is a cytosolic enzyme which its main function is to produce nadph in the red blood cells by controlling the step from glucose-6-phosphate to 6-phospho gluconate in the pentose phosphate pathway. g6pd deficiency is the most common x-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an x-linked recessive disorder expressed mostly in males. Patients with G6PD deficiency may present clinically with evidence of hemolytic anemia in the neonatal period or later in life, or may remain asymptomatic. The aim of this study was to determine the incidence of G6PD deficiency in Saudi infants screened at birth. All Saudi infants bo...

To establish the neonatal screening method of glucose-6 phosphate dehydrogenase (G6PD) deficiency, G6PD activity was measured using the fluorescence spot test (FST) using dried blood samples on filter paper. The G6PD/6PGD rate test of venous blood samples was further performed for confirmation. The positive G6PD deficiency rate was 4.2% and its detection rates were 3.7% for all neonates and 5.2...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent human enzyme deficiency, affecting an estimated 400 million people worldwide. G6PD deficiency increases erythrocyte vulnerability to oxidative stress and may precipitate episodes of hemolysis when individuals are exposed to triggering agents. Although central retinal vein occlusion (CRVO) does occur in G6PD-deficient indi...

An automated fluorometric microtechnic, suitable for screening purposes, has been developed for the quantitative determination of glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD) levels in red blood cells. The method is rapid, simple, and precise. It uses 50 p.I whole-blood (cpillary) samples and is based on the measurement of natural fluorescence emitted by ...

OBJECTIVE Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect. G6PD plays a key role in the pentose phosphate pathway, which is a major source of nicotinamide adenine dinucleotide phosphate (NADPH). NADPH provides the reducing equivalents for oxidation-reduction reductions involved in protecting against the toxicity of reactive oxygen species such as H2O2....

Human glucose-6-phosphate dehydrogenase (G6PD) is NADP(+)-dependent and catalyses the first and rate-limiting step of the pentose phosphate shunt. Binary complexes of the human deletion mutant, DeltaG6PD, with glucose-6-phosphate and NADP(+) have been crystallized and their structures solved to 2.9 and 2.5 A, respectively. The structures are compared with the previously determined structure of ...

Acquired methemoglobinemia is a medical emergency, and its prompt recognition and treatment can avoid catastrophic complications including death. However, in mild asymptomatic cases without any comorbid conditions, it would be reasonable to simply observe and treat symptomatically to avoid severe treatment-related complications, especially in patients with suspected glucose-6-phosphate dehydrog...

The steroid sulfatase (STS) levels in mature oocytes of XX and XO mice were assayed along with lactate dehydrogenase (LDH), an autosomal marker, and glucose-6-phosphate dehydrogenase (G6PD), a known X-linked gene. LDH levels in XX and XO oocytes were equal, whereas STS and G6PD levels were approximately twice as high in XX oocytes as in XO oocytes. These results indicate that the STS gene is X-...