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PMID: 21384227 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Journal of inherited metabolic disease ·Vol. 34 ·No. 4 ·2011-08-00 ·Pages 891-9

Sturiale L, Barone R, Garozzo D

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.

MeSH Terms
Body Fluids/chemistry,metabolism Congenital Disorders of Glycosylation/classification,diagnosis,genetics,metabolism Glycosylation Humans Mass Spectrometry/methods Metabolome Models, Biological Mutation/physiology Protein Processing, Post-Translational/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Sturiale Luisa
CNR - Institute of Chemistry and Technology of Polymers, Via P. Gaifami 18, 95126, Catania, Italy.
Barone Rita
Garozzo Domenico
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
1573-2665
DOI
10.1007/s10545-011-9306-8
Published
2011-08-00
Epub
2011-00-08
Pages
891-9
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/s10545-011-9306-8 View journal details
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