Yao J K, Dyck P J
Lipids. 1987 Feb;22(2):69-75. doi: 10.1007/BF02534855.
Three of six kin were identified, by high performance thin layer chromatography, capillary gas chromatography and mass spectrometry, as having phytanic acid storage disease. Phytanic acid was found in triacylglycerol and, to a lesser degree, in phosphatidylcholine and free fatty acids. An unsaturated analogue of phytanic acid was additionally identified in plasma and erythrocyte triacylglycerols. In plasma, branched chain fatty acids were primarily localized in the low density lipoprotein fraction. The concentration of plasma major fatty acids was not affected by the presence of these branched chain fatty acids. In contrast to plasma, only small amounts of phytanic acid were found in cerebrospinal fluid and biopsied sural nerve. The nerve phytanate was mainly associated with triacylglycerol in epineurial and perineurial tissues. Lack of phytanate accumulation in sural endoneurium, even in cases with severe fiber degeneration, suggests that demyelination in Refsum's disease may not be due to myelin instability resulting from the incorporation of branched chain fatty acids into peripheral nerve membrane.
通过高效薄层色谱法、毛细管气相色谱法和质谱法，在六个亲属中鉴定出三人患有植烷酸贮积病。在三酰甘油中发现了植烷酸，在磷脂酰胆碱和游离脂肪酸中也有少量发现。在血浆和红细胞三酰甘油中还额外鉴定出了植烷酸的一种不饱和类似物。在血浆中，支链脂肪酸主要存在于低密度脂蛋白部分。这些支链脂肪酸的存在并未影响血浆主要脂肪酸的浓度。与血浆相反，在脑脊液和活检的腓肠神经中仅发现少量植烷酸。神经植烷酸盐主要与神经外膜和神经束膜组织中的三酰甘油相关。即使在严重纤维变性的病例中，腓肠神经内膜中也缺乏植烷酸盐积累，这表明雷夫叙姆病中的脱髓鞘可能并非由于支链脂肪酸掺入周围神经膜导致髓鞘不稳定所致。
