3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者的有机酸排泄：事实与假象
Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.
作者信息
Duran M, Ketting D, Wadman S K, Jakobs C, Schutgens R B, Veder H A
出版信息
Clin Chim Acta. 1978 Dec 1;90(2):187-93. doi: 10.1016/0009-8981(78)90521-1.
PMID:719902
Abstract
The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial amounts of glutaric and adipic acids were repeatedly observed. 3-Methylcrotonic acid and possibly one of its isomers was found to be formed artificially from 3-methylglutaconic acid.
摘要
描述了一名患有3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者的有机酸排泄情况。除了3-羟基-3-甲基戊二酸、3-甲基戊烯二酸、3-甲基戊二酸和3-羟基异戊酸外，还反复观察到大量的戊二酸和己二酸。发现3-甲基巴豆酸及其可能的一种异构体是由3-甲基戊烯二酸人工形成的。
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