Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Ashwini Maratha, Henning Stockmann, Karen P. Coss, Estela Rubio Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P. McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd, Eileen Treacy*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

29 Citations (Web of Science)

Abstract

Classical galactosaemia (OMIM # 230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems remains poorly understood. The lack of validated biomarkers to determine prognosis, monitor disease progression and responses to new therapies, pose a huge challenge. We report the detailed analysis of an automated robotic hydrophilic interaction ultra-performance liquid chromatography N-glycan analytical method of high glycan peak resolution applied to serum IgG. This has revealed specific N-glycan processing defects observed in 40 adult galactosaemia patients (adults and adolescents), in comparison with 81 matched healthy controls. We have identified a significant increase in core fucosylated neutral glycans (P
Original languageEnglish
Pages (from-to)976-984
JournalEuropean Journal of Human Genetics
Volume24
Issue number7
DOIs
Publication statusPublished - Jul 2016

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