A new variant of glucosephosphate isomerase deficiency: GPI-Kortrijk.
A new case of glucosephosphate isomerase deficiency in a Belgian family is described. The activity of the enzyme was decreased to about 25-30% of the normal value. Characterization of the defect enzyme showed a decreased thermostability. Heating of the enzyme at 45 degrees C showed a loss of activity of 50% after 90 min. The pH-optimum and the KM-value for fructose 6-phosphate were normal. The electrophoretic pattern showed a faster migration. The variant described here differs from all known variants. Therefore we propose to give to this new variant the name GPI-Kortrijk.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D001792:Blood Platelets / Q000201:enzymology; D001797:Blood Protein Electrophoresis; D002648:Child; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005838:Genotype; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood; D006019:Glycolysis; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male
D005956:Glucose-6-Phosphate Isomerase