de Ruijter, Jessica4; de Ru, Minke H4; Wagemans, Tom4; Ijlst, Lodewijk4; Lund, Allan M5; Orchard, Paul J4; Schaefer, G Bradley4; Wijburg, Frits A4; van Vlies, Naomi4
1 Graduate School of Health and Medical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet2 Section of Gynaecology, Obstetrics and Paediatrics, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet3 Studienævnet for Medicin, BSc + MSc programme, Faculty of Health and Medical Sciences, Københavns Universitet4 unknown5 Graduate School of Health and Medical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders (LSDs) caused by a defect in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in MPS patients results in extensive, severe and progressive disease. Disease modifying therapy is available for three of the MPSs and is being developed for the other types. Early initiation of treatment, before the onset of irreversible tissue damage, clearly provides a favorable disease outcome. However, early diagnosis is difficult due to the rarity of these disorders in combination with the wide variety of clinical symptoms. Newborn screening (NBS) is probably the optimal approach, and several screening techniques for different MPSs have been studied. Here we describe a relatively simple and sensitive method to measure levels of dermatan and heparan sulfate derived disaccharides in dried blood spots (DBS) with HPLC-MS/MS, and show that this reliably separates MPS I, II and MPS III newborns from controls and heterozygotes.
Molecular Genetics and Metabolism, 2012, Vol 107, Issue 4, p. 705-10