肾上腺脑白质营养不良：通过高效液相色谱法检测极长链脂肪酸增加

Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography.

作者信息

Kobayashi T, Katayama M, Suzuki S, Tomoda H, Goto I, Kuroiwa Y

出版信息

J Neurol. 1983;230(4):209-15. doi: 10.1007/BF00313696.

PMID:6198480

Abstract

Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of C22:0) were elevated not only in plasma and erythrocyte membranes but also in whole blood samples. An increase of long chain fatty acids was also shown in sphingomyelin of cultured skin fibroblasts. One heterozygote for ALD showed intermediate values between homozygotes and controls. Thus, high-performance liquid chromatography is a valuable method to detect increased long chain fatty acids for the diagnosis of ALD or AMN.

摘要

采用高效液相色谱法，通过分析鞘磷脂中的脂肪酸来诊断肾上腺脑白质营养不良（ALD）和肾上腺脊髓神经病（AMN）。该分析方法简便、灵敏且准确。在ALD和AMN患者中，超长链脂肪酸（以C22:0为基础的C26:0、C25:0和C24:0）不仅在血浆和红细胞膜中升高，在全血样本中也升高。培养的皮肤成纤维细胞的鞘磷脂中也显示出长链脂肪酸增加。一名ALD杂合子的值介于纯合子和对照组之间。因此，高效液相色谱法是检测长链脂肪酸增加以诊断ALD或AMN的一种有价值的方法。