Glucose-6-phosphate dehydrogenase G6PD deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency (MIM 305900) A variety of mutations in the gene (X-linked) for G6PD, mostly single point mutations... 

C4. Chang, J.-G., Chiou, S.-S., Pemg, L.-I, Chen, T.-C., Liu, T.-C., Lee, L-S., Chen, P-H., and Tang, T. K., Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites Five mutations account for most G6PD deficiency cases in Taiwan. Blood 80,1079-1082 (1992). 

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in red blood cells X-linked recessive inheritance many specific mutations Common variants mild deficiency variant in African Americans, moderately severe deficiency variant in Caucasians of Mediterranean descent Frequency 1/10 males 1/100 males, African American and Mediterranean, respectively... 

In male patients who are homozygous for glucose 6-phosphate dehydrogenase (G6PD) deficiency, pathophysiologic consequences are more apparent in erythrocytes (RBC) than in other cells, such as in the liver. Which one of the following provides a reasonable explanation for this different response by these individual tissue types ... 

In the historical introduction to this book (Chapter 1, Sec. 2.1), I mentioned primaquine hemolysis and Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency during the second world war in American soldiers. I did not... 

Table 11-1. Drugs and Chemicals to BeAvoided in Patients with Glucose 6-phosphate Dehydrogenase (G6PD) Deficiency ...

The adverse effects of dapsone have been comprehensively reviewed (8). The most common untoward effect is hemolysis of varying degree it is usually mild, except in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Methemoglobinemia and Heinz... 

A peripheral eosinophilia is usual (2). Hemolysis has been reported once in glucose-6-phosphate dehydrogenase (G6PD) deficiency (SED-8, 691) (9). 

In a randomized, double-blind, placebo-controUed trial, in a single oral dose of 4—600 mg (base) in 48 men it was well tolerated, apart from minor gastrointestinal disturbances the half-hfe was 14 days (2). However, although tafenoquine may well be safer than primaquine, patients were also excluded from this trial if they had glucose-6-phosphate dehydrogenase (G6PD) deficiency, so it remains to be seen whether tafenoquine can overcome the most important practical problem with primaquine. Further widespread use will be needed before rare adverse effects, if any, emerge (SEDA-14, 958) (SEDA-21, 296) (SEDA-22, 305) (SEDA-23, 306). 

Glucose-6-phosphate dehydrogenase (G6PD) deficiency Many other enzyme deficiencies Extrinsic... 

Cappadoro, M., Giribaldi, G., O Brien, E., Turrini, F., Mannu, F., Ulliers, D., Simula, G., Luzzatto, L., and Arese, P. (1998). Early phagocytosis of glucose-6-phosphate dehydrogenase (G6PD)-deficient erythrocytes parasitized by Plasmodium falciparum may explain malaria protection in G6PD deficiency. Blood 92, 2527-2534. 

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