28. Simplified High-Throughput Multiplexed, Multi-Dimensional UHPLC-MS/MS Assay for the Screening Of Lysosomal Storage Disorders in Newborn Dried Blood Spots
Tue 4:48 PM - PosterSplash Track 3
David Kasper
Medical University of Vienna
View Long Abstract
Lysosomal storage disorders are just beginning to be routinely screened using enzyme activity assays involving dried blood spots and tandem mass spectrometry. The present work discusses the development of a novel, simplified protocol which circumvents several analytical challenges for Morbus Fabry,Gaucher, Niemann-Pick A/B, Pompe, Krabbe and Mucopolysaccharidosis type I. Moreover, a first nationwide newborn screening pilot study was initiated, and the data analysis of the first 70,000 samples will be presented. The estimated incidence for Fabry disease is 1:4,000-5,000; Pompe 1:8-10,000; Gaucher 1:15-20,000, Niemann-Pick A/B 1:80-100,000 and MPS I 1:20-30,000. In addition, mutation analysis will reveal further detailed information on genetic variants.