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.

引用

页码：1369 / 1372

页数：4

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