Schmidt-Sommerfeld E, Penn D, Duran M, Bennett M J, Santer R, Stanley C A
Department of Pediatrics, University of Chicago, Illinois.
J Pediatr. 1993 May;122(5 Pt 1):708-14. doi: 10.1016/s0022-3476(06)80009-0.
Sixty-one plasma samples from patients with inborn errors of fatty acid oxidation and from control subjects were analyzed in a blinded fashion for acylcarnitines by the radioisotopic exchange-high-performance liquid chromatographic method. All samples from patients with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (n = 30), some of which had been stored in a frozen state for several years, showed a prominent octanoylcarnitine peak. In all blood spots from 11 patients with MCAD deficiency, octanoylcarnitine was also detected. Control plasma specimens and blood spots contained small amounts of octanoylcarnitine; however, the octanoylcarnitine/acetylcarnitine ratio differentiated patients with MCAD deficiency. Longer-chain acylcarnitines were found in plasma of all three patients with defects in long-chain fatty acid oxidation. Plasma and blood spots from a patient with multiple acyl-coenzyme A dehydrogenase deficiency contained C4-acylcarnitine, hexanoylcarnitine, octanoylcarnitine, and decanoylcarnitine. The results suggest that the method may be highly sensitive in detecting MCAD deficiency and other defects in fatty acid oxidation from plasma or blood spots.
采用放射性同位素交换-高效液相色谱法，对61份来自脂肪酸氧化先天性代谢缺陷患者和对照受试者的血浆样本进行酰基肉碱分析，分析过程采用盲法。所有来自中链酰基辅酶A脱氢酶（MCAD）缺乏症患者的样本（n = 30），其中一些已冷冻保存数年，均显示出明显的辛酰肉碱峰。在11例MCAD缺乏症患者的所有血斑中，也检测到了辛酰肉碱。对照血浆标本和血斑中含有少量辛酰肉碱；然而，辛酰肉碱/乙酰肉碱比值可区分MCAD缺乏症患者。在所有3例长链脂肪酸氧化缺陷患者的血浆中均发现了长链酰基肉碱。一名多种酰基辅酶A脱氢酶缺乏症患者的血浆和血斑中含有C4-酰基肉碱、己酰肉碱、辛酰肉碱和癸酰肉碱。结果表明，该方法在检测血浆或血斑中的MCAD缺乏症和其他脂肪酸氧化缺陷方面可能具有高度敏感性。
