Tanaka K, Shimada M, Naruto T, Yamamoto H, Saeki Y, Sai H, Hirose G
Neurology. 1986 Jun;36(6):791-5. doi: 10.1212/wnl.36.6.791.
We used mass fragmentography to analyze a very long-chain fatty acid composition of erythrocyte membrane sphingomyelin. The content of hexacosanoic acid (C26:0), tetracosanoic acid (C24:0) and docosanoic acid (C22:0) in adrenoleukodystrophy (ALD) hemizygotes and heterozygotes was significantly higher than in controls. Although the ratio of C26:0 to C22:0 in 18 of the 46 controls was in the range of ALD heterozygotes, the absolute content of C26:0 and C24:0 in controls did not overlap with ALD hemizygotes or heterozygotes. The content of C26:0 and C24:0 is more reliable for detection of ALD hemizygotes and heterozygotes than the ratio of C26:0 to C22:0 when red cell sphingomyelin is used for diagnosis.
我们采用质量碎片分析法来分析红细胞膜鞘磷脂的极长链脂肪酸组成。肾上腺脑白质营养不良（ALD）半合子和杂合子中二十六烷酸（C26:0）、二十四烷酸（C24:0）和二十二烷酸（C22:0）的含量显著高于对照组。虽然46名对照组中有18名的C26:0与C22:0的比值处于ALD杂合子范围内，但对照组中C26:0和C24:0的绝对含量与ALD半合子或杂合子并无重叠。当使用红细胞鞘磷脂进行诊断时，C26:0和C24:0的含量比C26:0与C22:0的比值更能可靠地检测ALD半合子和杂合子。
