Skjeldal O H, Stokke O
Biochim Biophys Acta. 1987 Sep 4;921(1):38-42. doi: 10.1016/0005-2760(87)90167-6.
Peroxisomal disorders (Zellweger's syndrome, neonatal adrenoleukodystrophy, infantile Refsum's syndrome, rhizomelic chondrodysplasia) show a series of enzymatic defects related to peroxisomal dysfunctions. Accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) has been found in several of these patients, caused by a defect in the alpha-oxidation mechanism of this acid. The fact that the alpha-oxidation of phytanic acid is defective in the peroxisomal disorders as well as in classical Refsum's disease makes it likely that this oxidation normally takes place in the peroxisomes. A series of experiments preformed to localize the phytanic acid oxidase in subcellular fractions of rat liver show, however, that the alpha-oxidation of phytanic acid is a mitochondrial process. Free phytanic acid is the substrate, and the only cofactors necessary are ATP and Mg2+.
过氧化物酶体疾病（泽尔韦格综合征、新生儿肾上腺脑白质营养不良、婴儿型雷夫叙姆病、肢根型软骨发育不良）表现出一系列与过氧化物酶体功能障碍相关的酶缺陷。在其中一些患者中发现了植烷酸（3,7,11,15 - 四甲基十六烷酸）的蓄积，这是由该酸的α - 氧化机制缺陷所致。植烷酸的α - 氧化在过氧化物酶体疾病以及经典雷夫叙姆病中存在缺陷，这一事实表明这种氧化通常在过氧化物酶体中发生。然而，一系列旨在将植烷酸氧化酶定位在大鼠肝脏亚细胞组分中的实验表明，植烷酸的α - 氧化是一个线粒体过程。游离植烷酸是底物，唯一必需的辅助因子是ATP和Mg2 +。
