Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

Molecular Genetics and Metabolism Reports
Mari OhiraRyuichi Mashima

Abstract

Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycolipids, oligosaccharides, mucopolysaccharides, and other biological substances because of the pathogenic deficiency of lysosomal enzymes. Such diseases are rare; thus, a multiplex assay for these disorders is effective for the identification of affected individuals during the presymptomatic period. Previous studies have demonstrated that such assays can be performed using liquid chromatography-tandem mass spectrometry (LC-MS/MS) with multiple reaction monitoring (MRM) detection. An assay procedure to quantify the activity of 11 enzymes associated with LSDs was provided. First, a validation study was performed using dried blood spot (DBS) samples with 100% and 5% enzyme activity for quality control (QC). Under the assay condition, the analytical range, defined as the ratio of the peak area of the enzyme reaction products from the DBS for QC with 100% enzyme activity to that from the filter paper blank sample, was between 14 for GALN and 4561 for GLA. Based on these results, the distribution of the enzyme activity for the 11 LSD enzymes was further examined. Consistent with the previous data, the enzyme activity exhibited a bell-shaped distri...Continue Reading

Citations

Mar 20, 2020·International Journal of Molecular Sciences·Tsubasa OguniHironori Kobayashi
Oct 1, 2019·Current Pharmaceutical Design·Maria R GigliobiancoRoberta Censi
Aug 3, 2021·Frontiers in Physiology·Mark B WileyNicholas V DiPatrizio
Sep 5, 2021·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Mari OhiraRyuichi Mashima

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Methods Mentioned

BETA
enzyme replacement therapy
enzyme assay

Software Mentioned

MassLynx

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