Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.

TitleOligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.
Publication TypeJournal Article
Year of Publication2013
AuthorsXia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M
JournalClinical chemistry
Volume59
Issue9
Pagination1357-68
Date Published2013 Sep
Abstract

There are 45 known genetic diseases that impair the lysosomal degradation of macromolecules. The loss of a single lysosomal hydrolase leads to the accumulation of its undegraded substrates in tissues and increases of related glycoconjugates in urine, some of which can be detected by screening of free oligosaccharides (FOS) in urine. Traditional 1-dimensional TLC for urine oligosaccharide analysis has limited analytical specificity and sensitivity. We developed fast and robust urinary FOS and glycoaminoacid analyses by MALDI-time-of-flight/time-of-flight (MALDI-TOF/TOF) mass spectrometry for the diagnosis of oligosaccharidoses and other lysosomal storage diseases.

DOI10.1093/jxb/ert290
Alternate JournalClin. Chem.