Matsumoto M, Kuhara T, Inoue Y, Shinka T, Matsumoto I, Kajita M
Division of Human Genetics, Kanazawa Medical University, Ishikawa, Japan.
Biomed Environ Mass Spectrom. 1990 Mar;19(3):171-5. doi: 10.1002/bms.1200190313.
Urine from patients with calcium-4-(2,4-dihydroxy-3,3-dimethylbutyramido) butyrate hemihydrate (hopantenate) therapy during episodes of Reye's-like syndrome was found to contain a number of unusual dicarboxylic acids in high concentrations; odd- and even-numbered medium-chain dicarboxylic acids, alpha-hydroxydicarboxylic acids and beta-hydroxydicarboxylic acids. The abnormal excretion of dicarboxylic acids, alpha- and beta-hydroxydicarboxylic acids disappeared after discontinuance of hopantenate therapy. Besides the excretion of 2-hydroxydecandedioic acid, which has been previously described in Zellweger syndrome or neonatal adrenoleukodystrophy, a series of alpha-hydroxydicarboxylic acids was detected and identified. In this paper, we have characterized some new compounds by gas chromatography/mass spectrometry: 2-hydroxydodecanedioic acid, 2-hydroxydodecenedioic acid, 2-hydroxytetradecanedioic acid, 2-hydroxytetradecenedioic acid and 2-hydroxyoctanedioic acid.
在患有类瑞氏综合征发作期间接受4-(2,4-二羟基-3,3-二甲基丁酰胺基)丁酸半水合物(霍帕坦酯)治疗的患者尿液中,发现含有多种高浓度的异常二羧酸;奇数和偶数中链二羧酸、α-羟基二羧酸和β-羟基二羧酸。在停止霍帕坦酯治疗后,二羧酸、α-和β-羟基二羧酸的异常排泄消失。除了先前在 Zellweger 综合征或新生儿肾上腺脑白质营养不良中描述过的2-羟基癸二酸排泄外,还检测并鉴定出一系列α-羟基二羧酸。在本文中,我们通过气相色谱/质谱法对一些新化合物进行了表征:2-羟基十二烷二酸、2-羟基十二碳烯二酸、2-羟基十四烷二酸、2-羟基十四碳烯二酸和2-羟基辛二酸。