Skip to Main content Skip to Navigation
Journal articles

Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.

Abstract : BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. Since the clinical features of many of these disorders are not specific for a single enzyme deficiency, unambiguous screening is critical to limit the number of costly enzyme assays which otherwise must be performed. METHODS: Here we provide evidence for the advantages of using a MALDI-TOF/TOF (matrix-assisted laser desorption ionization time-of-flight) mass spectrometric (MS) method for screening oligosaccharidoses. Urine samples from previously diagnosed patients or from unaffected subjects were randomly divided into a training set and a blind testing set. Samples were directly analyzed without prior treatment. RESULTS: The characteristic MS and MS/MS molecular profiles obtained allowed us to identify fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, Sandhoff disease, α-mannosidosis, sialidosis and mucolipidoses type II and III. CONCLUSIONS: This method, which is easily run in less than 30 minutes, is performed in a single step, and is sensitive and specific. Invaluable for clinical chemistry purposes this MALDI-TOF/TOF mass spectrometry procedure is semi-automatizable and suitable for the urinary screening of oligosacharidoses.
Document type :
Journal articles
Complete list of metadatas

Cited literature [40 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00945684
Contributor : Ed. Bmc <>
Submitted on : Wednesday, February 12, 2014 - 4:53:09 PM
Last modification on : Wednesday, October 14, 2020 - 4:23:40 AM
Long-term archiving on: : Tuesday, May 13, 2014 - 11:26:44 AM

Files

1750-1172-9-19.pdf
Publisher files allowed on an open archive

Identifiers

Collections

Citation

Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel van Obberghen, Raymond Mengual, et al.. Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.. Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.19. ⟨10.1186/1750-1172-9-19⟩. ⟨inserm-00945684⟩

Share

Metrics

Record views

365

Files downloads

627