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Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies Aerts JM; Kallemeijn WW; Wegdam W; Joao Ferraz M; van Breemen MJ; Dekker N; Kramer G; Poorthuis BJ; Groener JE; Cox-Brinkman J; Rombach SM; Hollak CE; Linthorst GE; Witte MD; Gold H; van der Marel GA; Overkleeft HS; Boot RGJ Inherit Metab Dis 2011[Jun]; 34 (3): 605-19A 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.|*Antibodies[MESH]|Animals[MESH]|Biomarkers/*analysis/metabolism[MESH]|Enzyme Replacement Therapy[MESH]|Fabry Disease/diagnosis/metabolism/pathology/therapy[MESH]|Gaucher Disease/diagnosis/metabolism/pathology/therapy[MESH]|Humans[MESH]|Lipids/*analysis[MESH]|Lysosomal Storage Diseases/*diagnosis/metabolism/pathology/therapy[MESH]|Models, Molecular[MESH]|Proteins/*analysis/metabolism[MESH] |
