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Current State of the Art of Newborn Screening for Lysosomal Storage Disorders
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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

1
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
2
Department of Pediatrics, National Taiwan University College of Medicine, Taipei 10041, Taiwan
3
Department of Pediatrics, National Taiwan University Children Hospital, Taipei 10041, Taiwan
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2018, 4(4), 41; https://doi.org/10.3390/ijns4040041
Received: 26 September 2018 / Revised: 18 November 2018 / Accepted: 13 December 2018 / Published: 18 December 2018
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
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 α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), acid β-glucocerebrosidase (ABG; Gaucher), and acid α-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-Text
Keywords: Pompe newborn screening; tandem mass spectrometry; Gaucher newborn screening; Fabry newborn screening; accuracy Pompe newborn screening; tandem mass spectrometry; Gaucher newborn screening; Fabry newborn screening; accuracy
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Chiang, S.-C.; Chen, P.-W.; Hwu, W.-L.; Lee, A.-J.; Chen, L.-C.; Lee, N.-C.; Chiou, L.-Y.; Chien, Y.-H. 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. Int. J. Neonatal Screen. 2018, 4, 41.

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