Gd(-) Muret and gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism.
Two males subjects are described with hitherto undescribed glucose-6-phosphate dehydrogenase (G6PD) variants. The first is of French ancestry, the second of Sicilian extraction. Each subject suffered from acute hemolytic anemia following ingestion of broad beans (Vicia fava). In both cases the hemolytic crisis occurred in a late period of life (29 and 58 years). No previous hemolytic crisis was recorded. The electrophoretic and kinetic properties of the mutant enzymes examined after purification from the red cells allowed each to be distinguished from other G6PD variants reported until now. The first variant was named Gd(-) Muret, the other Gd(-) Colomiers.
D000328:Adult; D004592:Electrophoresis, Starch Gel; D005236:Favism / Q000150:complications* / Q000201:enzymology; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000201:enzymology; D006801:Humans; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D009249:NADP / Q000378:metabolism; D013379:Substrate Specificity
D009249:NADP; D005954:Glucosephosphate Dehydrogenase