线粒体脂肪酸氧化缺陷中的血浆游离脂肪酸

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

作者信息

Martínez G, Jiménez-Sánchez G, Divry P, Vianey-Saban C, Riudor E, Rodés M, Briones P, Ribes A

机构信息

Institut de Bioquímica Clínica, Corporació Sanitària, Edifici Helios III Cl Mejia Lequerica, Barcelona, Spain.

出版信息

Clin Chim Acta. 1997 Nov 28;267(2):143-54. doi: 10.1016/s0009-8981(97)00130-7.

DOI:10.1016/s0009-8981(97)00130-7

PMID:9469249

Abstract

Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.

摘要

采用气相色谱-质谱联用技术分析了患有各种线粒体β-氧化缺陷的患者的血浆游离脂肪酸谱。中链酰基辅酶A脱氢酶缺乏症患者体内的顺式-4-癸烯酸（10:1n-6）以及极长链和3-羟基长链酰基辅酶A脱氢酶缺乏症患者体内的顺式-5-十四碳烯酸（14:1n-9）是这些疾病的特征性表现。此外，3-羟基长链酰基辅酶A脱氢酶缺乏症患者的3-羟基长链脂肪酸有特异性升高。血浆游离脂肪酸研究是诊断某些线粒体β-氧化缺陷的一种简便且有用的方法，有助于我们快速区分中链和长链缺陷。