Adrenoleukodystrophy
Adrenoleukodystrophy
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DOI：
10.1212/wnl.27.10.928
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发表时间：
1977-10
期刊：
影响因子：
9.9
通讯作者：
John H. Menkes;Lucille M. Corbo
中科院分区：
文献类型：
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作者：
John H. Menkes;Lucille M. Corbo
在两个患有肾上腺脑白质营养不良的男孩的白色物质的胆固醇酯部分中证明了具有C22至C26链长的脂肪酸的积累。在神经节苷脂和神经节苷脂中也显示了类似的极长链脂肪酸积累。负责某些极长链脂肪酸代谢的一碳降解系统的紊乱可能是这种情况下的基本酶缺陷。
An accumulation of fatty acids having chain lengths of C22 to C26 was demonstrated in the cholesterol ester fraction of white matter from two boys with adrenoleukodystrophy. A similar accumulation of very long chain fatty acids was also shown in gangliosides and cerebrosides. A disorder of the one-carbon degradation system responsible for the metabolism of some of the very long chain fatty acids may be the basic enzymatic defect in this condition.