Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399408000550; 18 January 2008
Lorne A. Clarke (2008) The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med. Vol. 10, e1, DOI: 10.1017/S1462399408000550

The mucopolysaccharidoses: a success of molecular medicine

Lorne A. Clarke ^a1

^a1 University of British Columbia, Child and Family Research Institute, Department of Medical Genetics, 4500 Oak Street, Room C234, Vancouver, British Columbia, Canada, V6H 3N1. Tel: +1 604 875 3526; Fax: +1 604 875 2376; E-mail: lclarke@cw.bc.ca

The mucopolysaccharidoses represent a devastating group of lysosomal storage diseases affecting approximately 1 in 25 000 individuals. Advances in biochemistry and genetics over the past 25 years have resulted in the identification of the key hydrolases underlying the mucopolysaccharidoses, with subsequent isolation and characterisation of the genes involved. Ultimately these advances have led to the recent development of specific treatment regimens for some of the mucopolysaccharidoses, in the form of direct enzyme replacement. Direct replacement of the defective gene product has been attempted for very few genetic disorders, and thus the experience gained in the lysosomal storage diseases by the development, evaluation and integration of treatment regimens into healthcare is instructive for other rare genetic disorders. This review focuses on the pathophysiology of the mucopolysaccharidoses and highlights the complex biochemical and physiological perturbations that underlie the disease phenotype.

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