Identification of glycosylation abnormalities in galactosaemia

Published on May 3, 2013

This presentation illustrates the use of (NP)-HPLC analysis to determine galactose incorporation into serum IgG, used as a biomarker for the improved monitoring and treatment of patients with Galactosaemia.

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Classical or severe Galactosaemia is a genetic condition caused by a lack of the enzyme Galactose-1-phosphate uridyltransferase (GALT), which normally breaks down galactose (the sugar found in milk and dairy products). This occurs in approximately 1:60,000 births annually in Europe but has a higher incidence in Ireland of 1:16,000 births where it is detected by newborn screening. Despite early treatment, the majority of affected patients worldwide go on to develop devastating long-term complications such as intellectual impairment, neurological complications, speech difficulties and infertility in females. These complications may be associated with abnormal synthesis of N-glycoproteins.

Treacy Group | Trinity College Dublin, Ireland

Prof. Treacy is a Metabolic Consultant at the National Centre for Inherited Metabolic Disorders (Childrens University Hospital, Dublin) and Clinical Professor of Inborn Errors of Metabolism at Trinity College Dublin. Eileen Treacy graduated from Trinity College, Dublin in Medicine and trained in Paediatrics, Clinical and Biochemical Genetics in Canada, France and Australia, and subsequently was appointed as Associate Professor in Paediatrics and Human Genetics at Montreal Children’s Hospital, McGill University, Montreal, Canada prior to returning to Ireland in 2001. Her specific research interests are in the areas of Rare Diseases, Inherited Metabolic Disorders and the treatment of Genetic Diseases with a particular focus on Galactosaemia.
Karen Coss is a PhD student at the University College, Dublin studying the epigenetic effects in Classical Galactosaemia, including N-glycosylation variation.

Sources

The original research articles are published in Molecular Genetics and Metabolism and Pediatric Research.

Coss, K. P.; Byrne, J. C.; Coman; D. J.; Adamczyk, B.; Abrahams, J. L.; Saldova, R.; Brown, A. Y.; Walsh, O.; Hendroff, U.; Carolan, C.; Rudd, P. M.; Treacy, E., IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia, Mol. Genet. Metab., 2012, 105, 212–220. doi:10.1016/j.ymgme.2011.10.018

Coman, D. J.; Murray, D. W.; Byrne, J. C.; Rudd, P. M.; Baglaglia, P. M.; Doran, P. D.; Treacy, E. P., Galactosaemia, a single gene disorder with epigenetic consequences, Pediatr. Res., 2010, 67, 286–292. doi:10.1203/PDR.0b013e3181cbd542.

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