Sakai T, Antoku Y, Goto I
Exp Neurol. 1986 Oct;94(1):149-54. doi: 10.1016/0014-4886(86)90278-5.
The plasmalogen ratio (defined as area ratio of lysophosphatidylethanolamine to the diacyl form of phosphatidylethanolamine) was investigated in cultured skin fibroblasts from neonatal adrenoleukodystrophy (N = 4) and X-linked recessive (N = 3) in addition to Zellweger syndrome (N = 3) because plasmalogen was reported to be reduced in Zellweger syndrome. The ratio was markedly decreased in all cases of Zellweger syndrome studied and in three of the four cases of neonatal adrenoleukodystrophy, whereas it was normal in the X-linked cases. This is the first documentation of a plasmalogen deficiency in neonatal adrenoleukodystrophy.
研究了新生儿肾上腺脑白质营养不良(N = 4)、X连锁隐性遗传病(N = 3)以及 Zellweger 综合征(N = 3)的培养皮肤成纤维细胞中的缩醛磷脂比率(定义为溶血磷脂酰乙醇胺与磷脂酰乙醇胺的二酰基形式的面积比),因为据报道 Zellweger 综合征中缩醛磷脂减少。在所研究的所有 Zellweger 综合征病例以及四例新生儿肾上腺脑白质营养不良病例中的三例中,该比率显著降低,而在 X 连锁病例中该比率正常。这是新生儿肾上腺脑白质营养不良中缩醛磷脂缺乏的首次记录。