Galactose tolerance in adults with classical galactosaemia. Considering the gaps

Classical galactosaemia (CG, OMIM 230400 ) is a rare inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase. The available modality of treatment, a galactose-restricted diet, is effective in preventing life-threatening neonatal symptoms. However long-term complications including neurological, speech and fertility issues in females remain prevalent. This retrospective review reports the experience of mild-moderate relaxation of dietary galactose intake over time in a cohort of 31 Irish CG adult patients with established RBC Gal-1-P, and novel IgG N -glycan analysis. Three groups were categorised based on the retrospective analysis of estimated dietary galactose intake: Group 1 (