Red Blood Cell Glucose Metabolism in Trisomy lOp: Possible Role of Hexokinase in the Erythrocyte
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چکیده
Red blood cell glucose metabolism was investigated in a male patient with de novo trisomy lOp. According to previous evidence. when assigning hexokinase gene locus in the 1 Op1 1 pter region, a triplex dosage effect of hexokinase activity (HK) was found. while all the other erythrocyte glycolytic enzymes were in the normal values range. Red blood cell glucose utilization was 2.87 zmole/ hr/mi RBC as compared to 1 .43 in normal controls; the rate of glucose metabolized through the hexose monophosphate shunt (HMPS) was unchanged. Glucose-6-phosphate. fructose-6-phosphate, fructose-i .6-diphosphate. and dihydroxyacetone phosphate increased with respect
منابع مشابه
Red blood cell glucose metabolism in trisomy 10p: possible role of hexokinase in the erythrocyte.
Red blood cell glucose metabolism was investigated in a male patient with de novo trisomy 10p. According to previous evidence, when assigning hexokinase gene locus in the 10p11 leads to pter region, a triplex dosage effect of hexokinase activity (HK) was found, while all the other erythrocyte glycolytic enzymes were in the normal values range. Red blood cell glucose utilization was 2.87 mumole/...
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