Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.
The mucopolysaccharidoses (MPSs), a group of inherited lysosomal storage diseases, are complex, progressive, multisystem disorders with extreme clinical heterogeneity. The introduction of therapies that target the underlying enzyme deficiency in a number of the MPSs has brought to light the need for biomarkers that would aid in the evaluation of disease burden and as a means to objectively measure therapeutic response in individual patients. It is increasingly recognized that due to the extraordinarily complex pathogenesis of the MPSs, achieving these goals with a single analyte, such as urinary glycosaminoglycans, is unlikely. This recognition has created an impetus for the search for clinically useful biomarkers that reflect the disease pathogenesis and that are stage- or organ-specific. In this review, the current state of MPS biomarker research is discussed, with a focus on clinical utility in the MPSs.
Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada. lclarke@cw.bc.ca
Lorne A
LA
Clarke
Bryan
B
Winchester
Roberto
R
Giugliani
Anna
A
Tylki-Szymańska
Hernan
H
Amartino
D015415:Biomarkers / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis*
D015415:Biomarkers; D006025:Glycosaminoglycans