ERYTHROCYTE GLUTATHIONE SYNTHETASE DEFICIENCY LEADS NOT ONLY TO GLUTATHIONE BUT ALSO TO GLUTATHIONE-S-TRANSFERASE DEFICIENCY
ERYTHROCYTE GLUTATHIONE SYNTHETASE DEFICIENCY LEADS NOT ONLY TO GLUTATHIONE BUT ALSO TO GLUTATHIONE-S-TRANSFERASE DEFICIENCY
复制标题
DOI：
10.1172/jci112298
复制
发表时间：
1986-01-01
影响因子：
15.9
通讯作者：
PEGELOW, C
中科院分区：
文献类型：
--
作者：
BEUTLER, E;GELBART, T;PEGELOW, C
谷胱甘肽合成酶（GSH-S）是谷胱甘肽缺乏症的两种已知遗传原因之一。我们描述一个家庭的两个孩子有溶血性贫血。儿童红细胞缺乏GSH，GSH-S活性严重不足。未出现神经系统异常或5-氧代脯氨酸尿。同时在红细胞中检测到谷胱甘肽-S-转移酶（GST）缺乏。使用灵敏的循环试验，可以在红细胞中检测到残留的谷胱甘肽。在网织红细胞耗竭的制剂中，这种缺乏最为严重。父母红细胞的GSH-S活性正常一半，而谷胱甘肽S-转移酶活性正常。我们得出结论，主要缺陷是GSH-S之一。谷氨酰胺在体外稳定GST，并且假定患者红细胞中GST的缺乏是由于在缺乏足够的细胞内GSH水平的情况下这种酶的不稳定性。
Glutathione synthetase (GSH-S) is one of the two known hereditary causes of glutathione deficiency. We describe a family whose two children have hemolytic anemia. The children''s erythrocytes lack GSH and are severely deficient in GSH-S activity. No neurologic findings or 5-oxoprolinuria were present. A concurrent deficiency of glutathione-S-transferase (GST) was also detected in the erythrocytes. Residual glutathione could be detected in the erythrocytes using a sensitive cycling assay. The deficiency was found to be most severe in reticulocyte-depleted preparations. The GSH-S activity of the erythrocytes of the parents was one-half normal, while the glutathione S-transferase activity was normal. We conclude that the primary defect is one of GSH-S. Glutathione stabilizes GST in vitro, and it is assumed that the deficiency of GST in the erythrocytes of the patients is due to the instability of this enzyme in the absence of adequate intracellular GSH levels.