Newborn screening for methylmalonic acidurias -: Optimization by statistical parameter combination
Newborn screening for methylmalonic acidurias -: Optimization by statistical parameter combination
复制标题
DOI：
10.1007/s10545-008-0892-z
复制
发表时间：
2008-06-01
影响因子：
4.2
通讯作者：
Burgard, P.
中科院分区：
文献类型：
--
作者：
Lindner, M.;Ho, S.;Burgard, P.
随着串联质谱仪的引入，新生儿丙酸代谢紊乱的筛查变得越来越普遍。然而，是否应该对这些疾病进行人群筛查仍存在争议。最广泛使用的初级代谢物C(3)本身对钴胺代谢的较温和形式和/或缺陷的特异性较差或缺乏100%敏感性。提高特异性的策略包括计算代谢物比率(例如C(3)/C(2))或二级策略，从初筛样本中分析甲基丙二酸或2-甲基柠檬酸。我们报告了一种新的统计方法的结果，以确定允许100%的敏感性和更高的特异性的参数组合。这种替代方法的有希望的结果将必须在更大的数据集上得到证实。
With the introduction of tandem mass spectrometry, newborn screening for disorders of propionate metabolism became widely available. However, there is controversy whether population screening for these disorders should be performed. The most widely used primary metabolite C(3) itself has a poor specificity or lacks 100% sensitivity for milder forms and/or defects of cobalamin metabolism. Strategies to improve specificity have included the calculation of metabolite ratios (e.g. C(3)/C(2)) or second-tier strategies with analysis of methylmalonic acid or 2-methylcitric acid from the primary screening specimen. We report the results of a new statistical approach to identify parameter combinations that allow for 100% sensitivity as well as increased specificity. The promising results of this alternative approach will have to be substantiated on larger data sets.