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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

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

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel Van Obberghen, Raymond Mengual, Charlotte Hinault
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-19) contains supplementary material, which is available to authorized users.
Raymond Mengual and Charlotte Hinault contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

CH and RM conceived and designed the experiments. LB performed the experiments. LB, CH, RM and MP analyzed the data. MP and CC contributed to sample collection. CH, MP, LB, CC and EVO contributed to the writing of the paper. All authors read and approved the final manuscript.



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.


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.


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.


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.
Additional file 1: Figure S1: Bidirectional catabolic pathway of N-linked oligosaccharides and associated diseases. Figure S2. Different posibilities of cationization with sodium for the fucosyl-GlcNac-asparagine residue leading to different fragmentations of the parent ion at m/z 504 in positive mode deduced with HighChem Mass Frontier 5.1 logiciel. (PPT 226 KB)
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