Skjeldal O H, Stokke O, Refsum S, Norseth J, Petit H
J Neurol Sci. 1987 Jan;77(1):87-96. doi: 10.1016/0022-510x(87)90209-7.
Phytanic acid accumulation has for more than 20 years been used as a diagnostic criterion of Refsum's disease. Recently, however, phytanic acid has also been found in peroxisomal disorders (Zellweger's syndrome, neonatal adrenoleukodystrophy, infantile Refsum's syndrome, rhizomelic chondrodysplasia punctata). The 17 patients with Refsum's disease in the present study had serum phytanic acid values differing from 73 to less than 0.5 mg/dl (normal). alpha-Oxidation of phytanic acid in skin fibroblast cultures showed a defective capacity in all, with only small differences in residual activity. Phytanic acid determinations in serum from 3 of the 7 patients with peroxisomal disorders showed slightly elevated levels in 2. The alpha-oxidation capacity in the fibroblasts was defective in all, with a residual activity similar to that of Refsum's disease. An assay of the alpha-oxidation capacity may be useful in the diagnosis of both Refsum's disease and the peroxisomal disorders. The distinction between Refsum's disease and the peroxisomal disorders can easily be done on a clinical basis.
二十多年来，植烷酸蓄积一直被用作Refsum病的诊断标准。然而，最近在过氧化物酶体疾病（泽尔韦格综合征、新生儿肾上腺脑白质营养不良、婴儿型Refsum综合征、点状软骨发育不良）中也发现了植烷酸。本研究中的17例Refsum病患者血清植烷酸值在73至低于0.5mg/dl（正常）之间变化。皮肤成纤维细胞培养物中植烷酸的α氧化能力在所有患者中均有缺陷，残余活性仅有微小差异。7例过氧化物酶体疾病患者中有3例的血清植烷酸测定显示，其中2例略有升高。所有患者成纤维细胞的α氧化能力均有缺陷，残余活性与Refsum病相似。α氧化能力检测可能有助于Refsum病和过氧化物酶体疾病的诊断。Refsum病和过氧化物酶体疾病之间的区分在临床上很容易做到。
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