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Identification of glycosylation abnormalities in galactosaemia

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Identification of glycosylation abnormalities in galactosaemia
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163
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CC Attribution - NoDerivatives 4.0 International:
You are free to use, copy, distribute and transmit the work or content in unchanged form for any legal purpose as long as the work is attributed to the author in the manner specified by the author or licensor.
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Abstract
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. 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.
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