Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.

ABSTRACT:

Background

Urine and plasma biomarker testing for lysosomal storage disorders by liquid chromatography mass spectrometry (LC-MS) currently requires multiple analytical methods to detect the abnormal accumulation of oligosaccharides, mucopolysaccharides, and glycolipids. To improve clinical testing efficiency, we developed a single LC-MS method to simultaneously identify disorders of oligosaccharide, mucopolysaccharide, and glycolipid metabolism with minimal sample preparation.

Methods

We created a single chromatographic method for separating free glycans and glycolipids in their native form, using an amide column and high pH conditions. We used this glycomic profiling method both in untargeted analyses of patient and control urines using LC ion-mobility high-resolution MS (b

SUBMITTER: Mak J 

PROVIDER: S-EPMC9069563 | biostudies-literature | 2021 Sep-Oct

REPOSITORIES: biostudies-literature