MEDIUM-CHAIN AND LONG-CHAIN DICARBOXYLIC ACIDURIA IN PATIENTS WITH ZELLWEGER SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY
MEDIUM-CHAIN AND LONG-CHAIN DICARBOXYLIC ACIDURIA IN PATIENTS WITH ZELLWEGER SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY
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DOI：
10.1203/00006450-198601000-00018
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发表时间：
1986-01-01
影响因子：
3.6
通讯作者：
BOUGNERES, PF
中科院分区：
文献类型：
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作者：
ROCCHICCIOLI, F;AUBOURG, P;BOUGNERES, PF
本研究报告新生儿肾上腺脑白质营养不良和齐薇格综合征患者分泌一种非常特殊的有机酸模式。在6例新生儿肾上腺白质营养不良患者和1例齐薇格综合征患者的尿液中发现了含有偶数碳原子的二羧酸（己二酸、亚二酸、癸二酸、2 -和3-羟基癸二酸、十六烷二酸）以及含有奇数碳原子的二羧酸（戊烯酸、壬二酸、非-、三-和十五烷二酸）。二羧酸的积累，反映了它们的。线粒体和/或过氧化物酶体的氧化，因此作为这些过氧化物酶体疾病的额外有用标记。
This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar pattern of organic acids. Dicarboxylic acids with an even number of carbon atoms (adipic, suberic, sebacic, 2 and 3-hydroxy-sebacic, hexadecanedioic), as well as with an odd number of carbon atoms (pimelic, azelaic, un-, tri-, and pentadecanedioic) were found in excess in the urines of six patients with neonatal adrenoleukodystrophy and one with Zellweger syndrome. The accumulation of dicarboxylic acids, reflecting an impairment of their .beta.-oxidation in mitochondria and/or peroxisomes, thus appears as an additional useful marker of these peroxisomal diseases.