Larsson A, Wachtmeister L, von Wendt L, Andersson R, Hagenfeldt L, Herrin K M
Neuropediatrics. 1985 Aug;16(3):131-6. doi: 10.1055/s-2008-1052557.
Two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria) were investigated. Assays of erythrocyte enzyme levels in relatives revealed additional clinically healthy carriers. The girls had chronic metabolic acidosis, which was corrected by substitution with bicarbonate. They had an increased rate of hemolysis which was well compensated. Their granulocyte function was normal when tested in vitro. In both girls mental retardation developed progressively without additional clinical neurological symptoms. Their electroretinograms were abnormal indicating disturbed retinal electrophysiological function. Therapeutic trials were performed with oral administration of glutathione (Tathion), mercaptopropionylglycine (Thiola) and vitamin E. None of these compounds had an effect on the urinary excretion of 5-oxoproline, acid-base balance, pathological electroretinograms or the clinical condition. Initially, Thiola therapy increased the low levels of glutathione in patient erythrocytes but after several months of treatment the concentration of glutathione declined to pretreatment levels. There was no indication that orally administered glutathione, mercaptopropionylglycine or vitamin E had a beneficial effect in the doses used. Nevertheless, vitamin E administration has been continued in addition to the correction of acidosis with sodium bicarbonate.
对两名患有遗传性谷胱甘肽合成酶缺乏症（5-氧脯氨酸尿症）的姐妹进行了研究。对亲属的红细胞酶水平检测发现了其他临床健康的携带者。这两名女孩患有慢性代谢性酸中毒，通过补充碳酸氢盐得以纠正。她们的溶血速率增加，但得到了很好的代偿。体外检测时她们的粒细胞功能正常。两名女孩均逐渐出现智力发育迟缓，且无其他临床神经症状。她们的视网膜电图异常，表明视网膜电生理功能紊乱。进行了口服谷胱甘肽（泰特）、巯基丙酰甘氨酸（硫普罗宁）和维生素E的治疗试验。这些化合物均未对5-氧脯氨酸的尿排泄、酸碱平衡、病理性视网膜电图或临床状况产生影响。最初，硫普罗宁治疗使患者红细胞中低水平的谷胱甘肽有所增加，但经过数月治疗后，谷胱甘肽浓度降至治疗前水平。没有迹象表明口服的谷胱甘肽、巯基丙酰甘氨酸或维生素E在所使用的剂量下具有有益作用。尽管如此，除了用碳酸氢钠纠正酸中毒外，仍继续给予维生素E治疗。
