Forskning ved Københavns Universitet - Københavns Universitet


Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Jessica de Ruijter
  • Minke H de Ru
  • Tom Wagemans
  • Lodewijk Ijlst
  • Allan M Lund
  • Paul J Orchard
  • G Bradley Schaefer
  • Frits A Wijburg
  • Naomi van Vlies
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.
TidsskriftMolecular Genetics and Metabolism
Udgave nummer4
Sider (fra-til)705-10
Antal sider6
StatusUdgivet - 2012

ID: 48516657