title: A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).
abstract: A new case of glucosephosphate isomerase deficiency is described in a Dutch family. The activity of the enzyme was decreased to 20-25% of the normal value. Characterization of the defect enzyme showed a pronounced thermolability. Heating of the enzyme at 45 degrees C showed a loss of activity of 90% after one hour. The pH-optimum and the electrophoretic migration were normal. The Km-value for F-6-P, the Ki for the competitive inhibitors 2,3-DPG and 6-PG were in the normal range. The variant described here differs from all known variants. Therefore we propose to give to this new variant the name of GPI-Utrecht.
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology* / Q000235:genetics; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D001667:Binding, Competitive; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D002648:Child; D004355:Drug Stability; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000037:antagonists & inhibitors / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D009426:Netherlands
chemical_list: D005956:Glucose-6-Phosphate Isomerase