谷胱甘肽合成酶缺乏症，一种涉及5-氧脯氨酸尿症（焦谷氨酸尿症）患者γ-谷氨酰循环的先天性代谢缺陷。
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
作者信息
Wellner V P, Sekura R, Meister A, Larsson A
出版信息
Proc Natl Acad Sci U S A. 1974 Jun;71(6):2505-9. doi: 10.1073/pnas.71.6.2505.
Abstract
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that the metabolic lesion in this disease is at the glutathione synthetase (EC 6.3.2.3) step of the gamma-glutamyl cycle. Excessive urinary excretion of 5-oxoproline by these patients appears to be associated with increased synthesis of gamma-glutamyl-cysteine and formation of 5-oxoproline from this dipeptide. Thus, 5-oxoproline is produced in amounts that exceed the normal capacity of 5-oxoprolinase to convert it to glutamate. The data indicate that it may be possible to identify individuals who are heterozygous for this trait by determinations of erythrocyte glutathione synthetase.
摘要
对两名患有先天性代谢缺陷5-氧脯氨酸尿症（焦谷氨酸尿症）的姐妹的胎盘、培养的皮肤成纤维细胞和红细胞进行的酶研究表明，该疾病的代谢损伤发生在γ-谷氨酰循环中谷胱甘肽合成酶（EC 6.3.2.3）这一步骤。这些患者尿中5-氧脯氨酸的过量排泄似乎与γ-谷氨酰半胱氨酸合成增加以及由该二肽形成5-氧脯氨酸有关。因此，5-氧脯氨酸的产生量超过了5-氧脯氨酸酶将其转化为谷氨酸的正常能力。数据表明，通过测定红细胞谷胱甘肽合成酶，有可能识别出该性状的杂合个体。
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Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).谷胱甘肽合成酶缺乏症，一种涉及5-氧脯氨酸尿症（焦谷氨酸尿症）患者γ-谷氨酰循环的先天性代谢缺陷。
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Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
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Glutathione biosynthesis in human erythrocytes. I. Identification of the enzymes of glutathione synthesis in hemolysates.人类红细胞中的谷胱甘肽生物合成。I. 溶血产物中谷胱甘肽合成酶的鉴定。
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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。
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Enzymatic conversion of 5-oxo-L-proline (L-pyrrolidone carboxylate) to L-glutamate coupled with cleavage of adenosine triphosphate to adenosine diphosphate, a reaction in the -glutamyl cycle.5-氧代-L-脯氨酸（L-吡咯烷酮羧酸盐）酶促转化为L-谷氨酸，并伴有三磷酸腺苷裂解为二磷酸腺苷，这是γ-谷氨酰循环中的一个反应。
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