Mamlok R J, Mills G C, Goldblum R M, Daeschner C W
Enzyme. 1985;34(1):15-21. doi: 10.1159/000469354.
Studies were carried out on erythrocytes and fibroblasts from a 3-year-old white male with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia. Red blood cell G6PD activity was less than 0.02% of normal values. Since the child's fibroblasts had 2-4% of normal enzymic activity, they were utilized as a source of enzyme for kinetic studies. The G6PD demonstrated marked heat lability, a normal Km value for glucose-6-phosphate (56 mumol/l), a nearly normal pH-activity curve, and increased utilization of 2-deoxyglucose-6-phosphate (76% of the rate with glucose-6-phosphate). These studies clearly indicate that this is a new molecular variant (G6PD Beaumont).
对一名患有严重葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症和慢性非球形红细胞溶血性贫血的3岁白人男性的红细胞和成纤维细胞进行了研究。红细胞G6PD活性低于正常值的0.02%。由于该儿童的成纤维细胞具有正常酶活性的2-4%，因此它们被用作动力学研究的酶源。所检测的G6PD表现出明显的热不稳定性，葡萄糖-6-磷酸的Km值正常（56 μmol/l），pH-活性曲线接近正常，并且2-脱氧葡萄糖-6-磷酸的利用率增加（为葡萄糖-6-磷酸利用率的76%）。这些研究清楚地表明这是一种新的分子变体（G6PD博蒙特型）。
