Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

Johannes M.F.G. Aerts, Wouter W. Kallemeijn, Wouter Wegdam, Maria Joao Ferraz, Marielle J. van Breemen, Nick Dekker, Gertjan Kramer, Ben J. Poorthuis, Johanna E.M. Groener, Josanne Cox-Brinkman, Saskia M. Rombach, Carla E.M. Hollak, Gabor E. Linthorst, Martin D. Witte, Henrik Gold, Gijs A. van der Marel, Herman S. Overkleeft, Rolf G. Boot

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A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.
Original languageEnglish
Pages (from-to)605-619
Number of pages15
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - Jun-2011

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