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Glycobiology Advance Access published online on July 21, 2005
Glycobiology, doi:10.1093/glycob/cwj021
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© The Author 2005. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oupjournals.org
Received January 12, 2005
Revised July 18, 2005
Accepted July 18, 2005

Article

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia

Luisa Sturiale 1, Rita Barone 2, Agata Fiumara 3, Marta Perez 4, Marco Zaffanello 5, Giovanni Sorge 3, Lorenzo Pavone 3, Silvia Tortorelli 6, John F. O’Brien 6, Jaak Jaeken 7, and Domenico Garozzo 4*

1 Dr. L. Sturiale and Dr. R. Barone equally contributed to this paper; Istituto di Chimica e Tecnologia dei Polimeri, CNR, V.le Regina Margherita 6, I-95123 Catania, Italy
2 Dr. L. Sturiale and Dr. R. Barone equally contributed to this paper; Centro per le Malattie Metaboliche Ereditarie, Dipartimento di Pediatria, Università di Catania, Via S. Sofia 78, I-95123 Catania, Italy
3 Centro per le Malattie Metaboliche Ereditarie, Dipartimento di Pediatria, Università di Catania, Via S. Sofia 78, I-95123 Catania, Italy
4 Istituto di Chimica e Tecnologia dei Polimeri, CNR, V.le Regina Margherita 6, I-95123 Catania, Italy
5 Dipartimento di Pediatria, Università di Verona, P.le L. Scuro 10, I-37134 Verona, Italy
6 Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
7 Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium

* To whom correspondence should be addressed.
Domenico Garozzo, E-mail: dgarozzo{at}unict.it


  Abstract

Untreated classic galactosemia (galactose-1-phosphate uridyltransferase deficiency) is known as a secondary CDG (Congenital Disorders of Glycosylation) characterised by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there is also a partial deficiency of whole glycans of serum transferrin associated with increased fucosylation and branching as seen in genetic glycosylation assembly defects (CDG-I). Thus galactosemia seems to be a secondary "dual’ CDG causing a processing as well as an assembly N-glycosylation defect. We also demonstrated that in galactosemia patients transferrin N-glycan biosynthesis is restored upon dietary treatment.

Keywords: galactosemia/hyperfucosylation/hypoglycosylation/MALDI/transferrin.
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