Diagnosis of GM1 gangliosidosis based on detection of urinary oligosaccharides with high performance liquid chromatography.
Diagnosis of GM1 gangliosidosis based on detection of urinary oligosaccharides with high performance liquid chromatography.
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基于高效液相色谱法检测尿寡糖的 GM1 神经节苷脂沉积症的诊断
DOI：
10.1016/0009-8981(83)90158-4
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发表时间：
1983
期刊：
影响因子：
--
通讯作者：
O'Brien,JS
中科院分区：
文献类型：
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作者：
Warner,TG;Robertson,AD;O'Brien,JS
基于高效液相色谱法检测和定量尿中低聚半乳糖，建立了一种改进、快速、灵敏的GM 1神经节苷脂病生化诊断方法。将50-100 μ l尿液中的寡糖用NaB_3 H_4转化为放射性标记的寡糖-糖醇，并在商业硅胶-胺键合的高效液相色谱柱上分级分离。通过分析排泄的低聚糖水平及其特征性洗脱曲线，可以区分婴儿、青少年和成人发病的GM 1神经节苷脂沉积症亚型。婴儿和青少年患者含有相同数量的寡糖组分（13种分离组分），但可以通过青少年患者中低3-10倍的寡糖水平来区分，并且在某些情况下，通过高分子量化合物的浓度不成比例地降低来区分。成人发病患者的尿低聚糖浓度显著降低，比婴儿患者低130-180倍，明显缺乏高分子量低聚糖。
An improved, rapid, and sensitive method for the biochemical diagnosis of GM1gangliosidosis based on the detection and quantification of urinary galactosyl-oligosaccharides with high performance liquid chromatography was developed. The oligosaccharides, in 50–100 μ1 of urine, were converted to radioactively labeled oligosaccharide-alditols with NaB3H4and fractionated on commercial silica-amine bonded, high performance liquid chromatography columns. Delineation between infantile, juvenile, and adult onset subtypes of GM1gangliosidosis was possible by analysis of the levels of the excreted oligosaccharides and their characteristic elution profile. Infantile and juvenile patients contain identical numbers of oligosaccharide fractions (13 resolved components) but can be distinguished by 3–10-fold lower levels of oligosaccharides in juvenile patients and, in some cases by a disproportionately lower concentration of high molecular weight compounds. Adult onset patients were distinguished by substantially lower concentrations of urinary oligosaccharides, 130-180-fold below those in infantile patients, and the apparent absence of high molecular weight oligosaccharides.