谷胱甘肽合成酶缺乏症：一份家族报告。
Glutathione synthetase deficiency: a family report.
作者信息
Pejaver R K, Watson A H
机构信息
Department of Paediatrics, St Mary's Hospital, Newport, UK.
出版信息
J R Soc Med. 1994 Mar;87(3):171. doi: 10.1177/014107689408700321.
Abstract
Glutathione synthetase deficiency is a rare inborn error of metabolism. Low levels of and at times unstable molecules of glutathione synthetase leads to glutathione deficiency affecting various systems of the body. The inheritance is thought to be of autosomal recessive variety. We diagnosed the condition in a neonate and proceeded to investigate the family. The results are discussed below.
摘要
谷胱甘肽合成酶缺乏症是一种罕见的先天性代谢缺陷。谷胱甘肽合成酶水平低下且有时分子不稳定会导致谷胱甘肽缺乏，影响身体的各个系统。其遗传方式被认为是常染色体隐性遗传。我们诊断出一名新生儿患有这种疾病，并对其家族进行了调查。结果如下文所述。
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本文引用的文献
1
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.谷胱甘肽合成酶缺乏作为遗传性溶血性疾病的一个病因。
N Engl J Med. 1970 Dec 3;283(23):1253-7. doi: 10.1056/NEJM197012032832304.
2
5-Oxoprolinuria due to glutathione synthetase deficiency.
J Inherit Metab Dis. 1992;15(6):937-8. doi: 10.1007/BF01800239.
3
Biochemical heterogeneity in glutathione synthetase deficiency.谷胱甘肽合成酶缺乏症中的生化异质性。
J Clin Invest. 1978 Jun;61(6):1417-20. doi: 10.1172/JCI109060.
4
Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes.5-氧脯氨酸尿症中的红细胞谷胱甘肽合成酶：突变酶的动力学研究及杂合子的检测
Clin Chim Acta. 1976 Nov 15;73(1):19-23. doi: 10.1016/0009-8981(76)90298-9.
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