Gepubliceerd in:
01-02-2013
Glycosaminoglycan levels for newborn screening in MPS I, MPS II and MPS III
Auteurs:
Jessica de Ruijter, Minke H. de Ru, Tom Wagemans, Lodewijk IJlst, Frits A. Wijburg, N. van Vlies
Gepubliceerd in:
Tijdschrift voor Kindergeneeskunde
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bijlage 1/2013
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Extract
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders characterized by glycosaminoglycan accumulation and severe and progressive skeletal, cardiac and/or neurological disease. To date, 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, provides a favourable disease outcome. Early diagnosis, however, is difficult due to the rarity and the wide variety of clinical symptoms of these disorders. Newborn screening (NBS) would probably be the optimal approach for early diagnosis. We investigated whether analysis of glycosaminoglycan levels in newborn dried blood spots (DBS) could be used for NBS for different types of MPS. …