Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy.
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.
D000326:Adrenoleukodystrophy / Q000151:congenital / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D010955:Plasmalogens / Q000032:analysis*; D012016:Reference Values; D012867:Skin / Q000378:metabolism*; D014960:X Chromosome; D015043:Zollinger-Ellison Syndrome / Q000378:metabolism
D010955:Plasmalogens