肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

作者信息

Moser H W, Moser A B, Frayer K K, Chen W, Schulman J D, O'Neill B P, Kishimoto Y

出版信息

Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.

DOI:10.1212/wnl.31.10.1241

PMID:7202134

Abstract

With a new method we measured the saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls. ALD hemizygotes showed increased levels of hexacosanoate (C26 fatty acid) which represented 0.081 +/- 0.0066% (SEM) of total fatty acids, compared to 0.015 +/- 0.0032% in the controls. C25, C24, and C23 fatty acids were also increased, but the C22 and C20 fatty acids were normal. C26 levels were also increased in most ALD heterozygotes, with a mean level 0.057 +/- 0.0063% of total fatty acids. The technique can be used for diagnosis and carrier identification, and in the evaluation of therapy.

摘要

我们采用一种新方法，对肾上腺脑白质营养不良（ALD）半合子、ALD杂合子及对照组的血浆饱和极长链脂肪酸进行了测量。ALD半合子的二十六烷酸（C26脂肪酸）水平升高，其占总脂肪酸的0.081±0.0066%（标准误），而对照组为0.015±0.0032%。C25、C24和C23脂肪酸水平也升高，但C22和C20脂肪酸水平正常。大多数ALD杂合子的C26水平也升高，平均水平占总脂肪酸的0.057±0.0063%。该技术可用于诊断、携带者鉴定及治疗评估。