Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography
Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography
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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的增加
DOI：
10.1007/bf00313696
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发表时间：
1983
影响因子：
6
通讯作者：
Yoshigoro Kuroiwa
中科院分区：
文献类型：
--
作者：
Takurou Kobayashi;M. Katayama;Satoshi Suzuki;H. Tomoda;Ikuo Goto;Yoshigoro Kuroiwa
采用高效液相色谱法，通过分析鞘磷脂中的脂肪酸，诊断肾上腺白质营养不良（ALD）和肾上腺髓神经病变（AMN）。分析方法简便、灵敏、准确。在ALD和AMN患者中，超长链脂肪酸（C26:0， c25:0和C22:0基础上的c24:0）不仅在血浆和红细胞膜中升高，而且在全血样本中也升高。长链脂肪酸在培养的皮肤成纤维细胞鞘磷脂中也有明显的增加。ALD的一个杂合子显示在纯合子和对照之间的中间值。因此，高效液相色谱是一种检测长链脂肪酸增加的诊断ALD或AMN的有价值的方法。
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, C25:0and C24:0on 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.