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肉碱缺乏症、有机酸血症和瑞氏综合征。

Carnitine deficiency, organic acidemias, and Reye's syndrome.

作者信息

Stumpf D A, Parker W D, Angelini C

出版信息

Neurology. 1985 Jul;35(7):1041-5. doi: 10.1212/wnl.35.7.1041.

Abstract

Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic acidemias. In acute clinical crises, carnitine serves as a "buffer," trapping toxic acyl compounds. Mitochondrial failure develops in carnitine deficiency when there is insufficient tissue carnitine available to buffer toxic acyl-CoA metabolites. Toxic levels of acyl-CoA impair the citrate cycle, gluconeogenesis, the urea cycle, and fatty-acid oxidation. Carnitine replacement therapy is safe and induces excretion of toxic acyl groups in the urine.

摘要

相对肉碱缺乏在包括瑞氏综合征和有机酸血症在内的多种疾病的病理生理学中具有重要意义。在急性临床危象中,肉碱充当“缓冲剂”,捕获有毒酰基化合物。当组织中可用于缓冲有毒酰基辅酶A代谢物的肉碱不足时,肉碱缺乏会导致线粒体功能衰竭。酰基辅酶A的毒性水平会损害柠檬酸循环、糖异生、尿素循环和脂肪酸氧化。肉碱替代疗法是安全的,并能促使尿液中有毒酰基的排泄。

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