Glucose 6-phosphate dehydrogenase G6PD

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

Figure 52-2. Summary of probable events causing hemolytic anemia due to deficiency of the activity of glucose-6-phosphate dehydrogenase (G6PD) (MIM 305900).

B23. Beutler, E Kuhl, W Saenz, R. G. F., and Rodrigues, R. W., Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum. Genet. 87,462-464 (1991). 

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). 

PI 1. Persico, M. G., Viglietto, G., Martini, G Toniolo, D., Paonessa, G., Moscatelli, C., Dono, R., Vulliamy, T., Luzzatto, L., and D Urso, M., Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones Primary structure of the protein and unusual 5 non-coding region. Nucleic Acids Res. 14,2511-2522,7822 (1986). 

V10. Viglietto, G Montanaro, V., Calabro, V., Vallone, D D Urso, M., Persico, M. G., and Battis-tuzzi, G., Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population Biochemical and molecular characterization. Ann. Hum. Genet. 54, 1-15 (1990). 

V12. Vives Corrons, J. L. 1., Rovira, A., Pujades, A., Vulliamy, T., and Luzzatto, L., Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) in Spain and identification of two new base substitutions in the G6PD gene, Blood 84 (Suppl. 1), 551a (1994). 

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... 

Jackson LC, Chandler JP, Jackson RT. 1986. Inhibition and adaptation of red cell glucose-6-phosphate dehydrogenase (G6PD) in vivo to chronic sublethal dietary cyanide in an animal model. Hum Biol 58 67-77. 

In the oxidative phase, glucose 6-phosphate is metabolized by glucose 6-phosphate dehydrogenase (G6PD) to form 6-phosphogluconolactone (Figure 6-3). 

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 ... 

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