Galactosaemia, translating novel monitoring approaches into improved clinical practice

Galactosaemia is an inherited condition caused by a lack of an enzyme (catalyst) which normally breaks down galactose (the sugar found in milk products). This affects on in 16,000 births annually in Ireland (the highest incidence worldwide), and is screened for by the National Newborn Screening Programme.
When an affected infant is diagnosed, galactose is immediately restricted from the diet. This prevents often fatal liver disease and other immediate complications but does not prevent long-term complications such as intellectual impairment, neurological complications, speech difficulties and infertility in females which occur in the majority of patients. Galactosaemia is thus one of the understudied rare diseases with limited treatment options. We have shown in detailed biochemical and gene studies that major abnormalities affecting complex molecules, particularly glycoproteins (proteins with sugar chains attached) persist in treated individuals which may lead to disturbances of the body's intrinsic cellular machinery and the complications seen. In this research we now plan to expand from our earlier studies to see if we can match specific biomarkers, genes and glycosylation pathways which could be modified with new treatments and provide improved monitoring options for this condition.
We aim: (1) to further develop the measurement of the blood immunoglobulin glycoprotein, IgG as an improved clinical test for monitoring the galactose control in patients; (2) to test in patient samples the abnormal functioning of a number of genes which we have identified which may be linked to the complications of cognitive impairment and infertility and compare these findings with known fertility and hormonal tests and; (3) collaborate with our European clinical and research partners to develop a European Galactosaemia clinical and research network and Patient Registry. We believe that these studies will greatly improve the understanding of Galactosaemia and future treatment options and improve our patient outcomes.

Award Date: 19 June 2014
Award Value: €286,546
Principal Investigator: Professor Eileen Treacy
Host Institution: Trinity College Dublin
Scheme: Health Research Awards