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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 4/2011

01-08-2011 | CDG - an update

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

Authors: Luisa Sturiale, Rita Barone, Domenico Garozzo

Published in: Journal of Inherited Metabolic Disease | Issue 4/2011

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Abstract

Contribution of mass spectrometry (MS) in the diagnosis and characterization of congenital disorders of glycosylation (CDG) has long been known. CDG type I diseases are characterized by the under-occupancy of protein N-glycosylation sites. Electrospray (ESI) MS and matrix assisted laser desorption ionization (MALDI) MS are effective for underglycosylation analyses of intact serum Transferrin (Tf) in CDG-I patients by mass determination of individual component glycoforms. Thus, high-throughput methods developed to speed-up analytical times found increasing application in clinical testing for CDG detection. ESI MS recognizable glycoform profiles of serum Tf have been reported in CDG-I different from PMM2-CDG and in individual CDG-II defects. MALDI MS analysis of acidic and neutral N-linked glycans released from total plasma or targeted glycoproteins, is the mainstream tool to explore abnormal oligosaccharide structure and changes in the relative amount of individual oligosaccharides in CDG-II patients. Here we briefly review state-of-the-art and updates of MS-based applications for the diagnosis of CDG with special emphasis to detectable glycosylation profiles reported in different CDG types.
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Metadata
Title
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
Authors
Luisa Sturiale
Rita Barone
Domenico Garozzo
Publication date
01-08-2011
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 4/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9306-8

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