Gepubliceerd in:

01-02-2013

Biomarkers correlate with clinical response in long term use of enzyme replacement therapy in MPS I

Auteurs: E.J. Langereis, A.H.A. Wagemans, N. van Vlies, F.A. Wijburg

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Mucopolysaccharidosis type I (MPS-I) is a rare lysosomal disorder in which alpha-L-iduronidase insufficiency leads to accumulation of heparan and dermatan sulfate (GAGs) which leads to tissue damage. Enzyme replacement therapy (ERT) ameliorates some, but not all, somatic symptoms. Previous studies in our center show that currently used biomarkers (DMB-test) may overestimate the effect of ERT on the accumulation of GAGs. Heparan (HS) and dermatan sulfate (DS) derived disaccharides measured by tandem mass-spectrometry (MS/MS) may give a better indication of accumulating GAGs and may correlate better with clinical outcomes of ERT. …

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