G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.
A new variant of G6PD associated with chronic nonspherocytic hemolytic anemia (CNSHA) in a Japanese male is described. This variant is unique in that it has a normal electrophoretic mobility, normal Km for glucose-6-phosphate and NADP, and a normal utilization of the substrate 2-deoxyglucose-6-phosphate and deamino-NADP. It also shows a decreased thermal stability and a biphasic pH curve. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Kanazawa.
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000150:complications*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007564:Japan; D008297:Male; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase