Lysosomal storage disorders are just beginning to be routinely screened using enzyme activity assays involving dried blood spots and tandem mass spectrometry (MS/MS).

This paper discusses some of the analytical challenges associated with published assays including complex sample preparation and potential interference from excess residual substrate. Solutions to these challenges are presented in the form of on-line two-dimensional chromatography to eliminate off-line liquid-liquid extraction (LLE) and solid-phase extraction (SPE), the use of ultra-high-performance liquid chromatography (UHPLC) to separate excess substrate from all other analytes and multiplexed sample introduction for higher throughput required of a population screening assay. High sensitivity, specificity and throughput were demonstrated using this novel method.

Published in Rapid Communication in Mass Spectrometry, you can find the whole article on Researchgate or Pubmed.

Authors / corresponding author*

Kasper DC*; Herman J.; De Jesus VR; Mechtler TP; Metz TF; Shushan B.

Medical University of Vienna, Department of Pediatrics and Adolescent Medicine, Währinger Gürtel 18-20, Vienna, Austria