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Glycobiology Advance Access originally published online on July 21, 2005
Glycobiology 2005 15(12):1268-1276; 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

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

Luisa Sturiale1,3, Rita Barone1,4, Agata Fiumara4, Marta Perez3, Marco Zaffanello5, Giovanni Sorge4, Lorenzo Pavone4, Silvia Tortorelli6, John F. O’Brien6, Jaak Jaeken7 and Domenico Garozzo2,3

3 Istituto di Chimica e Tecnologia dei Polimeri, CNR, V.le Regina Margherita 6, I-95123 Catania, Italy; 4 Dipartimento di Pediatria, Centro per le Malattie Metaboliche Ereditarie, Università di Catania, Via S. Sofia 78, 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; and 7 Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium

1 These authors contributed equally to this work.

2 To whom correspondence should be addressed; e-mail: dgarozzo{at}unict.it

Received on January 12, 2005; revised on July 18, 2005; accepted on July 18, 2005

Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized 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.

Key words: galactosemia / hyperfucosylation / hypoglycosylation / MALDI / transferrin


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