A new variant of glucosephosphate isomerase deficiency.
A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.
D000483:Alleles; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology; D004355:Drug Stability; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D014644:Genetic Variation; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007700:Kinetics; D008297:Male; D009426:Netherlands; D010375:Pedigree
D005956:Glucose-6-Phosphate Isomerase