PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS

Citation
G. Martinez et al., PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Clinica chimica acta, 267(2), 1997, pp. 143-154
Citations number
15
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Laboratory Technology",Biology
Journal title
ISSN journal
0009-8981
Volume
267
Issue
2
Year of publication
1997
Pages
143 - 154
Database
ISI
SICI code
0009-8981(1997)267:2<143:PFIMFO>2.0.ZU;2-D
Abstract
Plasma free fatty acid profiles from patients suffering from various m itochondrial beta-oxidation deficiencies were analyzed by gas chromato graphy-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chai n acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1 n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenas e deficiencies are characteristic of these diseases. In addition, pati ents with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showe d a specific increase of 3-hydroxy-long chain fatty acids. The study o f plasma free fatty acids is an easy and useful methodology for the di agnostic approach of some mitochondrial beta-oxidation deficiencies, a llowing us to establish a quick differentiation between medium-and lon g-chain defects. (C) 1997 Elsevier Science B.V.