Rutenberg W D, Yang M C, Doberstyn E B, Bellanti J A
Pediatr Res. 1977 Mar;11(3 Pt 1):158-63. doi: 10.1203/00006450-197703000-00002.
A variety of leukocyte enzyme activities were studied in an 11-year-old female with chronic granulomatous disease (CGD) and several members of her family. Leukocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was 17 nmol/min/mg protein in the patient; two brothers with symptoms of recurrent bacterial infections have G-6-PD activities of 58 and 37 nmol/min/mg protein; the activites of this enzyme in both parents, maternal grandmother, and one additional brother were within normal limits. Storage at 4 degrees or heating at 37 degrees over a 120-min period revealed a marked lability of G-6-PD activity in the patient's cells which could not be stabilized by the addition of NADP and 2-mercaptoethanol; this lability was not seen in other family members tested. Activities of leukocyte glutathione reductase were reduced in both parents and the two affected male siblings with values of 18, 23, 23, and 24 nmol/min/mg protein, respectively. Activities of leukocyte glutathione peroxidase were reduced in all of the immediate family members tested, with values ranging from 11.2 to 43 nmol/min/mg protein; the activity of this enzyme in the patient was 38.5. Leukocyte NADP content in the patient, father, and two affected male siblings were 16.5, 23.4, 22.2, and 28.2 nmol/15 min/10(7) leukocytes, respectively.
对一名患有慢性肉芽肿病（CGD）的11岁女性及其家族中的几名成员进行了多种白细胞酶活性研究。患者白细胞葡萄糖-6-磷酸脱氢酶（G-6-PD）活性为17 nmol/分钟/毫克蛋白；两名有反复细菌感染症状的兄弟G-6-PD活性分别为58和37 nmol/分钟/毫克蛋白；父母、外祖母和另一名兄弟的该酶活性均在正常范围内。在4℃储存或在37℃加热120分钟后发现，患者细胞中的G-6-PD活性明显不稳定，添加NADP和2-巯基乙醇无法使其稳定；在其他受测家庭成员中未观察到这种不稳定性。父母和两名受影响的男性同胞的白细胞谷胱甘肽还原酶活性均降低，分别为18、23、23和24 nmol/分钟/毫克蛋白。所有受测直系家庭成员的白细胞谷胱甘肽过氧化物酶活性均降低，值在11.2至43 nmol/分钟/毫克蛋白之间；患者该酶的活性为38.5。患者、父亲和两名受影响的男性同胞的白细胞NADP含量分别为16.5、23.4、22.2和28.2 nmol/15分钟/10⁷白细胞。
