Lubenow N, Diepenbrock F, Schickling H, Bock D, Heckler R, Sander J
Staatliches Medizinaluntersuchungsamt Hannover (Public Health Laboratory Hanover), Germany.
Eur J Clin Chem Clin Biochem. 1994 Jul;32(7):525-8. doi: 10.1515/cclm.1994.32.7.525.
A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluated and adapted to a neonatal screening programme. Using this assay, it is possible to determine quantitatively the phenylalanine concentration in dried blood spots on filter paper. The test exhibited a linear calibration curve with a good slope as well as sufficient precision and accuracy in the statistical analysis. Interference by other amino acids and antibiotics was not observed. Only elevated concentrations of leucine interfered to a small degree. The phenylalanine concentration in dried blood spots of 13 phenylketonuria patients correlated to that in serum. 7381 dried blood samples of newborn infants were tested simultaneously by both the fluorometric and the Guthrie test. The results did not show significant differences. We screened 29,182 newborns using the fluorometric assay and an online data processing programme. The internal repetition rate was 0.64%, the external recall rate 0.15%. False negative results were not observed. In December 1991 the fluorometric method replaced the Guthrie test in our routine programme for phenylketonuria screening, and was introduced as a follow up test for phenylketonuria patients.
对一种用于苯丙酮尿症筛查的微量滴定板荧光测定法进行了评估，并将其应用于新生儿筛查项目。使用该测定法，可以定量测定滤纸上干血斑中的苯丙氨酸浓度。该测试在统计分析中呈现出具有良好斜率的线性校准曲线，以及足够的精密度和准确度。未观察到其他氨基酸和抗生素的干扰。只有高浓度的亮氨酸有轻微干扰。13例苯丙酮尿症患者干血斑中的苯丙氨酸浓度与血清中的浓度相关。同时用荧光测定法和Guthrie试验对7381份新生儿干血样本进行了检测。结果未显示出显著差异。我们使用荧光测定法和在线数据处理程序对29182名新生儿进行了筛查。内部重复率为0.64%，外部召回率为0.15%。未观察到假阴性结果。1991年12月，荧光测定法在我们常规的苯丙酮尿症筛查项目中取代了Guthrie试验，并作为苯丙酮尿症患者的后续检测方法引入。
