以[1-14C]植烷酸为底物诊断Refsum病。

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate.

作者信息

Poulos A

出版信息

Clin Genet. 1981 Oct;20(4):247-53. doi: 10.1111/j.1399-0004.1981.tb01029.x.

DOI:10.1111/j.1399-0004.1981.tb01029.x

Abstract

The suitability of using [1-14C]phytanic acid as a substrate for the diagnosis of Refsum's disease has been examined. Normal fibroblasts cultured in medium containing low concentrations of foetal calf serum (0.5%) oxidised added [1-14C]phytanic acid to 14CO2 only slowly up to about 2 days; beyond this period a marked stimulation in oxidation was observed. Easily measurable conversion of the radiolabelled acid (from 1.5 to 5.0%) was obtained by numbers of cells at least one order of magnitude fewer than previously described. Fibroblasts from adult patients with Refsum's disease displayed about 5-10% of the normal mean activity. Small differences in residual activity were observed in the different cell lines. However, no obvious relationship was found between the degree of residual activity, the level of plasma phytanate, and the patient's clinical condition and history.

摘要

已对使用[1-¹⁴C]植烷酸作为底物诊断雷夫叙姆病的适用性进行了研究。在含有低浓度胎牛血清（0.5%）的培养基中培养的正常成纤维细胞，在大约2天内仅缓慢地将添加的[1-¹⁴C]植烷酸氧化为¹⁴CO₂；在此之后，观察到氧化有明显的刺激作用。通过比先前描述的细胞数量至少少一个数量级的细胞数量，获得了放射性标记酸的易于测量的转化率（从1.5%到5.0%）。成年雷夫叙姆病患者的成纤维细胞显示出正常平均活性的约5 - 10%。在不同细胞系中观察到残余活性存在小的差异。然而，在残余活性程度、血浆植烷酸盐水平与患者的临床状况和病史之间未发现明显关系。