天生的谷胱甘肽代谢中的错误。
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Ristoff E,拉尔森
天生的谷胱甘肽代谢中的错误。
Orphanet J罕见说。2007年3月30日,16。
- PubMed ID
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17397529 (在PubMed]
- 文摘
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谷胱甘肽是一种三肽由谷氨酸、半胱氨酸和甘氨酸。谷胱甘肽存在于毫克分子浓度在大多数哺乳动物细胞和参与几个基本的生物功能,包括自由基清除、解毒的外源性物质和致癌物质,氧化还原反应,生物合成的DNA、蛋白质和白细胞三烯,以及神经传递/神经调节。通过gamma-glutamyl谷胱甘肽是生物新陈代谢周期,由六个催化酶。人,世袭的缺陷被发现在五六酶。谷胱甘肽合成酶缺陷是最常见的障碍,严重的形式,它是与溶血性贫血有关,代谢性酸中毒,5-oxoprolinuria,中枢神经系统(CNS)损伤和复发性细菌感染。Gamma-glutamylcysteine合成酶缺乏症也与溶血性贫血有关,和一些这个障碍患者显示缺陷的神经肌肉功能和广义氨基酸尿。Gamma-glutamyl转肽酶缺陷被发现在中枢神经系统参与和glutathionuria患者。5-Oxoprolinase缺乏与5-oxoprolinuria但没有明确协会与其他症状。二肽酶缺陷被描述在一个病人。所有疾病都非常罕见,在常染色体隐性方式遗传。 Most of the mutations are leaky so that many patients have residual enzyme activity. Diagnosis is made by measuring the concentration of different metabolites in the gamma-glutamyl cycle, enzyme activity and in glutathione synthetase and gamma-glutamylcysteine synthetase deficiency, also by mutation analysis. Prenatal diagnosis has been preformed in glutathione synthetase deficiency. The prognosis is difficult to predict, as few patients are known, but seems to vary significantly between different patients. The aims of the treatment of glutathione synthesis defects are to avoid hemolytic crises and to increase the defense against reactive oxygen species. No treatment has been recommended for gamma-glutamyl transpeptidase, 5-oxoprolinase and dipeptidase deficiency.