Onkenhout W, Venizelos V, van der Poel P F, van den Heuvel M P, Poorthuis B J
Department of Pediatrics, University Hospital, Leiden, The Netherlands.
Clin Chem. 1995 Oct;41(10):1467-74.
The free fatty acid and total fatty acid profiles in plasma of nine patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, two with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and two with mild-type multiple acyl-CoA dehydrogenase (MAD-m) deficiency, were analyzed by gas chromatography-mass spectrometry. In the plasma of patients with MCAD deficiency we found increases of octanoic acid (8:0), decanoic acid (10:0), 4-decenoic acid (10:1 omega 6), and 4,7-decadienoic acid (10:2 omega 3), all present almost exclusively in free form. The patients with VLCAD deficiency showed increases of mainly 5-tetradecenoic acid (14:1 omega 9) and to a minor extent 5-dodecenoic acid (12:1 omega 7), 5,8-tetradecadienoic acid (14:2 omega 6), and 7,10-hexadecadienoic acid (16:2 omega 6), in both the free and esterified fatty acid fraction. The MAD-m patients showed variable increases of all the unusual fatty acids present in MCAD- and VLCAD-deficient plasma. The 14:1 omega 9, 14:2 omega 6, and 16:2 omega 6 fatty acids were present mainly in the esterified form. Measurement of these fatty acids in plasma by the relatively simple method presented here provides a sensitive and specific aid in the diagnosis of acyl-CoA dehydrogenase deficiency disorders.
采用气相色谱 - 质谱分析法，对9例中链酰基辅酶A脱氢酶（MCAD）缺乏症患者、2例极长链酰基辅酶A脱氢酶（VLCAD）缺乏症患者和2例轻型多种酰基辅酶A脱氢酶（MAD - m）缺乏症患者血浆中的游离脂肪酸和总脂肪酸谱进行了分析。在MCAD缺乏症患者的血浆中，我们发现辛酸（8:0）、癸酸（10:0）、4 - 癸烯酸（10:1 ω6）和4,7 - 癸二烯酸（10:2 ω3）均有增加，且几乎全部以游离形式存在。VLCAD缺乏症患者的血浆中，游离脂肪酸和酯化脂肪酸部分主要是5 - 十四碳烯酸（14:1 ω9）增加，5 - 十二碳烯酸（12:1 ω7）、5,8 - 十四碳二烯酸（14:2 ω6）和7,10 - 十六碳二烯酸（16:2 ω6）有少量增加。MAD - m缺乏症患者血浆中，MCAD和VLCAD缺乏症患者血浆中出现的所有异常脂肪酸均有不同程度增加。14:1 ω9、14:2 ω6和16:2 ω6脂肪酸主要以酯化形式存在。本文介绍的相对简单的方法用于检测血浆中的这些脂肪酸，可为酰基辅酶A脱氢酶缺乏症的诊断提供敏感且特异的辅助手段。
