Glucose-6-phosphate dehydrogenase deficiency serves as a prototype of the many human enzyme deficiencies that are now known. Since its discovery more than 50 years ago, the high prevalence of the defect and the easy accessibility of the cells that manifest it have made it a favorite tool of biochemists, epidemiologists, geneticists, and molecular biologists as well as clinicians. In this brief ...

Sir, Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is not rare in Turkey. The frequency of this enzyme deficiency in Turkish males was reported to vary between 0.5-11.4% depending upon geographical areas and/or ethnic groups.1,2 Molecular studies of red cell G6PD enzyme revealed the presence of about 122 mutations which were recently reviewed by Vulliamy et al.3 Enzyme deficiency...

PURPOSE This study aimed to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants with neonatal indirect hyperbilirubinemia (NIH); compare G6PD-deficient and G6PD-normal patients regarding hyperbilirubinemia and need for exchange transfusions (ET); and assess risk factors for ET and kernicterus. METHODS This is a case-control retrospective study. Medica...

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...

OBJECTIVE: To report a case of rare neutrophil functional disorder with clinical and laboratory findings similar to those of chronic granulomatous disease. METHODS: Patient with extremely reduced level of glucose-6-phosphate dehydrogenase and recurrent infections that improved after continuous use of cotrimoxazole. The patient presented leukocytes with defective respiratory burst, similar to wh...

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.

Four years data from Special Care Baby Unit revealed neonatal jaundice (NNJ) as the commonest cause of hospitalization (1944 cases of NNJ out of 6454 admitted neonates). Majority (47.5%) of babies with NNJ presented between 4-7 days of birth. One hundred and sixty infants with NNJ were positive for Glucose 6 Phosphate dehydrogenase (G6PD) deficiency, of whom 153 were males and 7 females. Eighty...

Background: Jaundice is affecting over 60-80 percent of neonates in the first week of life. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is an important cause of pathologic hyperbilirubinemia, can lead to hemolytic anemia, jaundice and kernicterus. The present study was performed to determine the prevalence of G6PD deficiency among icteric neonates in Shirvan, Iran. Methods: This ...

OBJECTIVES To present a case of acute brucellosis triggering acute hemolytic anemia in a subject with glucose-6-phosphate dehydrogenase (G6PD) deficiency. CLINICAL PRESENTATION AND INTERVENTION A 17-year-old male patient presented with fever, malaise and jaundice. His blood and bone marrow cultures yielded Brucella species. In addition, he was found to have acute hemolytic anemia due to previ...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. It is a globally important cause of neonatal jaundice and causes life-threatening hemolytic crisis in childhood. At later ages, certain drugs such as antimalarials, and fava beans cause hemolysis among G6PD deficiency patients. The ...