Unit

UNIT 17.10 Determination of Sialylated and Neutral Oligosaccharides in Urine by Mass Spectrometry

  1. Peter R. Clements

Published Online: 1 JAN 2012

DOI: 10.1002/0471142905.hg1710s72

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Clements, P. R. 2012. Determination of Sialylated and Neutral Oligosaccharides in Urine by Mass Spectrometry. Current Protocols in Human Genetics. 72:17.10:17.10.1–17.10.14.

Author Information

  1. SA Pathology/Women's and Children's Hospital, North Adelaide, South Australia

Publication History

  1. Published Online: 1 JAN 2012
  2. Published Print: JAN 2012

Abstract

This protocol describes a method to allow for the detection of specific oligosaccharide fragments in urine by tandem mass spectrometry. The detection of fragments with specific masses indicates the presence of one of a number of diseases where the deficiency of lysosomal enzymes involved in the degradation of the glyco- moieties of glycoproteins is present in the patient. This method describes the derivatization of oligosaccharides present in urine with phenyl-1-methylpyrazolone, which renders them hydrophobic, thus allowing desalting with Combi cleanup columns prior to injection. This method allows the detection of storage of oligosaccharides, which may indicate the presence of one of the infantile Pompe disease, α-mannosidosis, Gm1-gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, I-cell disease, and aspartylglucosaminuria. Curr. Protoc. Hum. Genet. 72:17.10.1-17.10.14 © 2012 by John Wiley & Sons, Inc.

Keywords:

  • lysosomal disease;
  • oligosacchariduria;
  • tandem mass spectrometry;
  • lysosomal enzymes