遗传性红细胞葡糖磷酸异构酶缺乏症一例及其变异型鉴定

Hereditary erythrocyte glucosephosphate isomerase deficiency (A case report and GPI variant characterization)

红细胞葡糖磷酸异构酶遗传性缺乏是引起非球形细胞性溶血的第四位原因。本文报告一例,在检查了患者红细胞18种酶和GSH含量以及双亲的GPI活性后证实为遗传性GPI缺乏症。在此基础上,用溶血液对其变异型作了鉴定。指标为:酶活性、电泳速率、热稳定性、米氏常数(Km)、pH曲线、半乳糖6-磷酸利用率。经比较发现为一新变异型,定名为GPI-广州(GPI-Guangzhou)。

Hereditary erythrocyte glucosephosphate isomerase (GPI) deficiency is the fourth most common cause of non-spherocytic hemolytic anemia. A case of GPI deficiency was confirmed after screening a panel of 18 red cell enzymes and GSH. The GPI variant was characterized by biochemical parameters including GPI activity in erythrocytes and plasma, low substrate activity, electrophoretic mobility, pH optimum, Michaelis constant (Km), thermostability, and substrate analogue (GAL-6-P) utilization rate. A new GPI variant was found and was designated as GPI-Guangzhou.