Wellner V P, Sekura R, Meister A, Larsson A
Proc Natl Acad Sci U S A. 1974 Jun;71(6):2505-9. doi: 10.1073/pnas.71.6.2505.
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.
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。
