Duran M, Bruinvis L, Ketting D, de Klerk J B, Wadman S K
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Clin Chem. 1988 Mar;34(3):548-51.
The profile of organic acids in plasma of patients with a deficiency of medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) was determined by gas-liquid chromatography of trimethylsilylated derivatives of the acids isolated by ethyl acetate extraction. All 13 patients had increased concentrations of free octanoate, cis-4-decenoate, and decanoate in their plasma. Cis-4-decenoate, an intermediary metabolite of linoleic acid, is pathognomonic of medium-chain acyl-CoA dehydrogenase deficiency. This metabolite does not accumulate in plasma after oral loading with medium-chain triglycerides, in contrast to octanoate and decanoate. Two postmortem plasma samples from victims of infant sudden-death syndrome had detectable octanoate and decanoate, but cis-4-decenoate could not be detected. The identification of cis-4-decenoate in plasma may be an aid in the diagnosis of an inherited defect in oxidation of medium-chain fatty acids.
采用气相色谱法，对经乙酸乙酯萃取分离出的有机酸的三甲基硅烷化衍生物进行分析，从而测定中链酰基辅酶A脱氢酶（EC 1.3.99.3）缺乏症患者血浆中的有机酸谱。13例患者血浆中的游离辛酸、顺式-4-癸烯酸和癸酸浓度均升高。顺式-4-癸烯酸是亚油酸的中间代谢产物，是中链酰基辅酶A脱氢酶缺乏症的特征性物质。与辛酸和癸酸不同，口服中链甘油三酯后，这种代谢产物不会在血浆中蓄积。两例婴儿猝死综合征受害者的尸检血浆样本中可检测到辛酸和癸酸，但未检测到顺式-4-癸烯酸。血浆中顺式-4-癸烯酸的鉴定可能有助于诊断中链脂肪酸氧化的遗传性缺陷。
