[HTML][HTML] Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to …
Abstract Purpose Newborn screening for Krabbe disease (KD) originated in New York State
in 2006 but has proven to have a high false positive rate and low positive predictive value.
To improve accuracy of presymptomatic prediction, we propose a screening tool based on
two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC). Methods We
developed the tool using measures from dried blood spots of 166 normal newborns and
tested it on dried blood spot measures from 15 newborns who later developed KD, 8 …
in 2006 but has proven to have a high false positive rate and low positive predictive value.
To improve accuracy of presymptomatic prediction, we propose a screening tool based on
two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC). Methods We
developed the tool using measures from dried blood spots of 166 normal newborns and
tested it on dried blood spot measures from 15 newborns who later developed KD, 8 …