Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency

被引：9

作者：

Libert, R

Van Hoof, F

Thillaye, M

Vincent, MF

Nassogne, MC

Stroobant, V

de Hoffmann, E

Schanck, A

机构：

[1] Clin Univ St Luc, Dept Biol Clin, Malad Metab Lab, B-1200 Brussels, Belgium

[2] Univ Catholique Louvain, Dept Chim, Lab Spectrometrie Masse, B-1348 Louvain, Belgium

[3] Univ Catholique Louvain, Dept Chim, Chim Phys & Cristallog Lab, B-1348 Louvain, Belgium

[4] Univ Catholique Louvain, Dept Chim, Ctr Adv Mat Res, B-1348 Louvain, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 01期

关键词：

D O I：

10.1023/A:1005482828392

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Previously undescribed medium-chain acylcarnitines were identified in a urine sample from a patient with medium-chain acyl-CoA dehydrogenase deficiency. These are the 4-methylvaleryl, 4- and 5-methylhexanoyl, 6-methyl-heptanoyl-, 6-methyloctanoyl-, 4,5-dimethylhexanoyl- and 4,7-decadienoylcarnitines. Their chemical structures were obtained by gas chromatography-mass spectrometry analysis of their fatty acid moieties as picolinyl esters.

引用

页码：9 / 18

页数：10