Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders are not well understood. Among recent advances is that the disease state can be linked to a disturbance in the oxidation/reduction environment of th...

Objectives: The single most inherited enzyme deficiency is that of glucose-6-phosphate dehydrogenase (G6PD) with a presence in almost 400 million theworld’spopulation. Thenumber reported G6PD mutations 186. Furthermore, geographical location determining factor for the prevalence G6PD. Therefore, much existing epidemiological literature concerning this issue Turkey has data specific to cities an...

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect and affects more than 400 million people worldwide. This deficiency is believed to protect against malaria because its global distribution is similar. However, this genetic disorder may be associated with potential hemolytic anemia after treatment with anti-malarials, primaquine or other 8-amin...

Polyunsaturated fatty acids inhibit the expression of hepatic glucose-6-phosphate dehydrogenase (G6PD) by changes in the amount of G6PD pre-mRNA in the nucleus in the absence of changes in the transcription rate of the gene. We have compared the nuclear accumulation of partially and fully spliced mRNA for G6PD in the livers of mice fed diets high versus low in polyunsaturated fat. Consumption o...

Alphab-crystallin, a small heat-shock protein has been shown to prevent the aggregation of other proteins under various stress conditions. We have investigated the role of alphaB-crystallin in the reactivation of denaturant [GdmCl (guanidinium chloride)]-inactivated G6PD (glucose-6-phosphate dehydrogenase). Studies indicate that unfolding and inactivation of G6PD by GdmCl proceeds via formation...

A patient undergoing chemotherapy for relapsed non Hodgkin lymphoma developed tumor lysis syndrome, hypoxia and the abrupt onset of intravascular hemolysis. A past history of unexplained anemia and the finding of blister cells on peripheral smear led to the suspicion of congenital glucose phosphate dehydrogenase (G6PD) deficiency with intravascular hemolysis induced by the drug rasburicase. G6P...

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) deficiency is rare among Japanese ethnicity although it is known as one of the most common hereditary disorders of erythrocytes, causing intravascular hemolysis. It is well-known that G6PD deficiency may cause hemolysis even in the neonatal period. However, most cases are asymptomatic, and the frequency of severe anemia is low. FINDINGS We d...

The overall incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Iranian population is estimated around 10%-14.9%. G6PD deficiency is an X-linked disorder and 80% of donors are usually male. At present, donors’ blood is not routinely screened for G6PD deficiency in Iran blood bank where for detecting such enzyme deficiency, reliance is placed on pre-donation data. Thus, the G6PD ...

BACKGROUND AND OBJECTIVES Glucose 6-phosphate dehydrogenase (G6PD) deficiency is a relatively common enzymopathy, but there are few publications relating such condition to anesthesia. This report aimed at presenting a case of a G6PD-deficient patient, submitted to Achilles tendon tenotomy under intravenous anesthesia associated to spinal block. CASE REPORT Male patient, 9 years old, 48 kg, wi...