Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia |
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Authors: | Sturiale Luisa Barone Rita Fiumara Agata Perez Marta Zaffanello Marco Sorge Giovanni Pavone Lorenzo Tortorelli Silvia O'Brien John F Jaeken Jaak Garozzo Domenico |
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Institution: | Istituto di Chimica e Tecnolgia dei Polimeri, CNA, Viale Regina Margherita 6, I-95123 Catania, Italy. |
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Abstract: | 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. |
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