MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - A NEW DISORDER OF FATTY-ACID OXIDATION

被引：24

作者：

LARGILLIERE, C

VIANEYSABAN, C

FONTAINE, M

BERTRAND, C

KACET, N

FARRIAUX, JP

机构：

[1] HOP DEBROUSSE, DEPT BIOCHEM, LYON, FRANCE

[2] HOP CALMETTE, DEPT NEONATOL, LILLE, FRANCE

来源：

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION | 1995年 / 73卷 / 02期

关键词：

FATTY ACID OXIDATION DEFECT; VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY;

D O I：

10.1136/fn.73.2.F103

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.

引用

页码：F103 / F105

页数：3

共 6 条

[1] A NOVEL DISEASE WITH DEFICIENCY OF MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE [J].