Nakashima K, Yamauchi K, Miwa S, Fujimura K, Mizutani A, Kuramoto A
Am J Hematol. 1978;4(2):141-50. doi: 10.1002/ajh.2830040206.
A kindred with hereditary spherocytosis was found to have erythrocyte glutathione reductase deficiency. The glutathione reductase was evaluated enzymatically and immunologically. The enzyme activity could not be restored either by flavin adenine dinucleotide (FAD) in vitro, or by oral administration of FAD. Kinetic and electrophoretic studies, heat stability tests, and pH curves revealed no evidence of a varient enzyme. The results of electroimmunodiffusion and neutralization tests using an antiserum indicated that the deficiency is caused by a diminished production of enzyme protein. Hereditary spherocytosis and glutathione reductase deficiency traits segregated independently. The amount of reduced glutathione in the erythrocyte was normal, and the deficiency state without hereditary spherocytosis was asymptomatic. All deficient members in this kindred were heterozygous and the residual enzyme activity in the heterozygote might be sufficient to maintain the reduced glutathione level to prevent oxidative stress.
发现一个患有遗传性球形红细胞增多症的家族存在红细胞谷胱甘肽还原酶缺乏症。对谷胱甘肽还原酶进行了酶学和免疫学评估。该酶活性在体外既不能通过黄素腺嘌呤二核苷酸（FAD）恢复，口服FAD也无法恢复。动力学和电泳研究、热稳定性测试以及pH曲线均未显示存在变异酶的证据。使用抗血清进行的电免疫扩散和中和试验结果表明，这种缺乏是由酶蛋白产生减少所致。遗传性球形红细胞增多症和谷胱甘肽还原酶缺乏性状独立分离。红细胞中还原型谷胱甘肽的量正常，且无遗传性球形红细胞增多症的缺乏状态无症状。该家族中所有缺乏症成员均为杂合子，杂合子中的残余酶活性可能足以维持还原型谷胱甘肽水平以防止氧化应激。
