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Abstract Glucose 6-phosphate dehydrogenase (G6PD) deficiency is one of the most frequent red cell enzymopathies affecting some 400 million people globally. Glucose-6-phosphate dehydrogenase is a cytoplasmic enzyme that is active in virtually all types of cells and that is involved in the normal processing of carbohydrates, and is particularly critical to the integrity and functioning of red blood cells (RBCs), which carry oxygen from the lungs to tissues throughout the body. This enzyme helps to protect red blood cells from oxidative damage and premature destruction. G6PD expression is regulated by hormonal and nutritional factors in only a few tissues. G6PD expression is regulated in liver and adipose tissue and its activity correlates with the rate of fatty acid biosynthesis. It is also induced in lactating mammary glands by dietary carbohydrates. G6PD deficiency is transmitted by mutations in the G6PD gene located on the X chromosome and follows an X-linked recessive inheritance (sex linked) pattern. Thus males, who are always hemizygous, are more likely to be affected than females. According to the clinical manifestations, it is important to note that the majority of G6PD deficient individuals are asymptomatic most of the time. |