Department of Biochemical Genetics, National Center of Medical Genetics, 146 Street No. 3102, Havana, Cuba.
Clin Biochem. 2013 Jun;46(9):805-9. doi: 10.1016/j.clinbiochem.2013.03.009. Epub 2013 Mar 19.
The aim of this study was to validate an ultramicroassay with a reduced interference of hemoglobin for the enzymatic diagnosis of mucopolysaccharidosis I in dried blood spots on filter paper.
A matrix of dried blood was incorporated within the calibration system. In addition, trichloroacetic acid was added to precipitate hemoglobin. Linearity, precision, accuracy and limits of detection and quantification were determined and α-l-iduronidase activity was obtained from 6 patients, 9 heterozygotes, 25 healthy adults and 500 neonates.
The ultramicroassay was linear, precise (coefficients of variation less than 10%) and accurate (recovery between 91 and 98%). The interference of hemoglobin was decreased within the hematocrit range of clinical interest: 35-55%.
This ultramicroassay increases in 2.5 times the difference between healthy individuals and patients with respect to the reference assay; optimizing enzymatic quantification and confirmatory biochemical diagnosis for mucopolysaccharidosis I.
本研究旨在验证一种改良的微孔法，该方法可减少血红蛋白对滤纸干血斑中黏多糖贮积症 I 的酶学诊断的干扰。
在校准系统中加入干血矩阵。此外，还添加三氯乙酸沉淀血红蛋白。对线性、精密度、准确度和检测限及定量限进行了测定，并对 6 名患者、9 名杂合子、25 名健康成年人和 500 名新生儿进行了α-L-艾杜糖苷酸酶活性测定。
微孔法具有线性、精确性（变异系数小于 10%）和准确性（回收率为 91%至 98%）。在临床感兴趣的红细胞比容范围内（35%-55%），血红蛋白的干扰减少。
与参考测定相比，该微孔法将健康个体与黏多糖贮积症 I 患者之间的差异提高了 2.5 倍；优化了黏多糖贮积症 I 的酶定量和确认性生化诊断。
