Dave M B, Chawla P K, Dherai A J, Ashavaid T F
Biochemistry Department, P.D.Hinduja National Hospital & Medical Research Centre, T.H. Kataria Marg, Mumbai, 400 016 India.
Indian J Clin Biochem. 2015 Jul;30(3):293-7. doi: 10.1007/s12291-014-0456-y. Epub 2014 Jul 27.
Mucopolysaccharidoses, a group of inherited disorders are associated with defects in glycosaminoglycan metabolism. Thus, assessment of urinary glycosaminoglycan is used as a screening test for mucopolysaccharidoses. The detection methods range from qualitative spot tests to quantification using metachromatic dyes. In our laboratory we optimized a spectrophotometric quantitative method using a metachromatic dye, dimethylmethylene blue. Heparan sulfate was used for quantification. The glycosaminoglycan-dye complex showed a marked shift in color with increase in concentration. The color complex was quantified at 520 nm. The method was linear from 10-89 mg/L. An age matched normal range was obtained in 177 healthy individuals, grouped in 8 different age groups from neonates to adults. Urinary glycosaminoglycan concentration varied distinctly amongst the study population wherein the lowest range in healthy neonates was more than 3 times the upper limit of healthy adults. Urine samples from 10 patients with mucopolysaccharidoses were also included in the study for clinical validation. The method qualified both analytical and clinical validation and was found to be simple, robust and ideal to be offered as a screening test for mucopplysaccharidoses in a routine clinical chemistry laboratory.
黏多糖贮积症是一组遗传性疾病，与糖胺聚糖代谢缺陷有关。因此，尿糖胺聚糖的评估被用作黏多糖贮积症的筛查试验。检测方法从定性斑点试验到使用异染性染料的定量分析。在我们实验室，我们优化了一种使用异染性染料二甲苯亚甲基蓝的分光光度法定量方法。使用硫酸乙酰肝素进行定量。糖胺聚糖 - 染料复合物的颜色随着浓度增加而发生明显变化。在520nm处对颜色复合物进行定量。该方法在10 - 89mg/L范围内呈线性。在177名健康个体中获得了年龄匹配的正常范围，这些个体分为从新生儿到成年人的8个不同年龄组。在研究人群中，尿糖胺聚糖浓度差异明显，其中健康新生儿的最低范围是健康成年人上限的3倍多。该研究还纳入了10例黏多糖贮积症患者的尿液样本进行临床验证。该方法通过了分析和临床验证，被发现简单、可靠，是常规临床化学实验室中作为黏多糖贮积症筛查试验的理想方法。
