%0 Journal Article
%T Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease
%A An-Ju Lee
%A Li-Chu Chen
%A Li-Yan Chiou
%A Ni-Chung Lee
%A Pin-Wen Chen
%A Shu-Chuan Chiang
%A Wuh-Liang Hwu
%A Yin-Hsiu Chien
%J -
%D 2018
%R https://doi.org/10.3390/ijns4040041
%X Abstract Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in 2015. The test determined activities of acid ¦Á-glucosidase (GAA; Pompe), acid ¦Á-galactosidase (GLA; Fabry), acid ¦Â-glucocerebrosidase (ABG; Gaucher), and acid ¦Á- l-iduronidase (IDUA; MPS-I) in dried blood spots (DBS). Through 2017, 64,148 newborns were screened for these four LSDs. The screening algorithm includes enzyme activity/ratio as the cutoffs for the first screening test and a second-tier test for Pompe disease screening. The second-tier Pompe disease screening test measured activity inhibition by acarbose. Twenty-nine newborns required a confirmatory test; six were confirmed to have Pompe disease, and nine were confirmed to have Fabry disease. The screen-positive rate for Pompe disease was 0.031%. Therefore, in Pompe disease newborn screening, a validated 2nd tier test is necessary to decrease false positives. View Full-Tex
%K Pompe newborn screening
%K tandem mass spectrometry
%K Gaucher newborn screening
%K Fabry newborn screening
%K accuracy
%U https://www.mdpi.com/2409-515X/4/4/41