Dec 1, 1975

A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht)

Clinica Chimica Acta; International Journal of Clinical Chemistry
J P Van BiervlietG E Staal


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.

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Mentioned in this Paper

Anemia, Hemolytic, Congenital
Hot Temperature
Carbohydrate Metabolism, Inborn Errors
Drug Stability
Anemia, Hemolytic, Congenital Nonspherocytic
Hydrogen-Ion Concentration
Autocrine Motility Factor
Deficiency of glucose-6-phosphate Dehydrogenase

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