A NOVEL DISEASE WITH DEFICIENCY OF MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE

被引：139
|
作者：
AOYAMA, T
UCHIDA, Y
KELLEY, RI
MARBLE, M
HOFMAN, K
TONSGARD, JH
RHEAD, WJ
HASHIMOTO, T
机构：
[1] GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
[2] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA
[3] UNIV CHICAGO, DEPT PEDIAT, CHICAGO, IL 60637 USA
[4] UNIV IOWA, DEPT PEDIAT, IOWA CITY, IA 52242 USA
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1993年 / 191卷 / 03期
关键词：
D O I：
10.1006/bbrc.1993.1368
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Palmitoyl-CoA dehydrogenase activity in skin fibroblasts from seven patients with unidentified defects of fatty acid oxidation was measured in the presence and absence of antibodies against medium-chain, long-chain, and very-long-chain acyl-CoA dehydrogenases (VLCAD). Two of the patients, 4-5 month old boys, were found to have a novel disease, VLCAD deficiency, as judged from the results of very low palmitoyl-CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCAD. © 1993 Academic Press.
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收藏
页码：1369 / 1372
页数：4
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