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

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)

SUBMITTER: Ohira M 

PROVIDER: S-EPMC6129719 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature