Characterization of a new glucose-6-phosphate dehydrogenase variant: G6PD Central City |
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Authors: | M Csepreghy A Yeilding M Lilly K Hall C W Scott J T Prchal |
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Affiliation: | Division of Hematology/Oncology, University of Alabama, Birmingham 35294. |
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Abstract: | Glucose-6-phosphate-dehydrogenase deficiency is the most common disease-producing enzyme deficiency in man. This paper describes a new glucose-6-phosphate-dehydrogenase variant discovered during the evaluation of an episode of acute hemolytic anemia in a 62-year-old black male, which was temporally related to the ingestion of Tolbutamide. The hemolysis resolved within 10 days despite continuation of Tolbutamide. The erythrocyte glucose-6-phosphate-dehydrogenase activity was significantly decreased, and its electrophoretic mobility was indistinguishable from wild type enzyme, though faster on starch gel with tris, borate, and phosphate buffers. The enzyme had a biphasic pH optimum reduced Km for G-6-P and NADP, decreased utilization of deamino-NADP, and reduced Ki for NADPH. Because the kinetic properties of this enzyme were unique, we have designated it as G6PD Central City. |
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Keywords: | glucose-6-phosphate dehydrogenase deficiency enzyme activity G6PD variants G6PD Central City |
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