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The mucopolysaccharidoses (MPS) are prominent among the lysosomal storage diseases. The intra-lysosomal accumulation of glycosaminoglycans (GAGs) in this group of diseases, which are caused by several different enzyme deficiencies, induces a cascade of responses that affect cellular functions and maintenance of the extra-cellular matrix. Against the background of normal tissue-specific processes, this review summarizes and discusses the histological and biochemical abnormalities reported in the bones, joints, teeth and extracellular matrix of MPS patients and animal models. With an eye to the possibilities and limitations of reversing the pathological changes in the various tissues, we address therapeutic challenges, and present a model in which the cascade of pathologic events is depicted in terms of primary and secondary events.

__1. Letter to the editor__ In November 2011 a paper was published in the Clinica Chimica Acta by Ouesleti et al. entitled ‘Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients’. The researchers describe variants found in seven patients with a severe phenotype of Sanfilippo disease. Our attention was specifically drawn to the variants found in the HGSNAT gene encoding the enzyme acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78) on chromosome 8p11, causing MPS IIIC. The HGSNAT gene was sequenced in three patients from two MPS IIIC families. [...]