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

Van Biervliet, J.P.; Van Milligen-Boersma, L.; Staal, G.E.

Clinica Chimica Acta; International Journal of Clinical Chemistry 65(2): 157-165

1975


ISSN/ISBN: 0009-8981
PMID: 241517
DOI: 10.1016/0009-8981(75)90103-5
Accession: 068525040

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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.