Poulos A, Sharp P, Johnson D
Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
Neurology. 1989 Jan;39(1):44-7. doi: 10.1212/wnl.39.1.44.
The plasma of patients with inherited defects in peroxisomal biogenesis (ie, Zellweger's syndrome, infantile Refsum's disease, and neonatal adrenoleukodystrophy) shows evidence of a disturbance in the metabolism of saturated and monoenoic fatty acids with carbon chain lengths greater than 22 (VLCFA). Zellweger's syndrome plasma alone contains, in addition, increased amounts of a number of n-6 polyenoic VLCFA including 24:5, 26:5, 28:5, 30:5, and 30:6 fatty acids. These fatty acids facilitate the biochemical discrimination of Zellweger's syndrome from other related phenotypes.
患有过氧化物酶体生物合成遗传性缺陷（即脑肝肾综合征、婴儿型Refsum病和新生儿肾上腺脑白质营养不良）的患者血浆显示，碳链长度大于22的饱和脂肪酸和单烯脂肪酸（极长链脂肪酸，VLCFA）的代谢存在紊乱迹象。此外，仅脑肝肾综合征患者的血浆中就含有大量增加的n-6多烯极长链脂肪酸，包括24:5、26:5、28:5、30:5和30:6脂肪酸。这些脂肪酸有助于从其他相关表型中对脑肝肾综合征进行生化鉴别。
