L’approccio reumatologico alla patologia da accumulo dei mucopolisaccaridi (dalla mucopolisaccaridosi I alla IX)

[Autom. eng. transl.] Mucopolysaccharide or mucopolysaccharidosis (MPS) diseases are a group of lysosomal enzymes caused by mutations in the genes encoding enzymes responsible for the catabolism of mucopolysaccharides, also known as glycosaminoglycans, macromolecules with a structural role in every organ and tissue. There are three basic types of glycosaminoglycans: dermatansulfate, heparan sulfate and keratansulfate, whose degradation is controlled by numerous enzyme systems. The lack of a specific enzyme uniquely determines a type of MPS. The intra-lysosomal accumulation of non-degraded glycosaminoglycans in parenchymal and mesenchymal cells generates clinical phenotypes that vary depending on the specific enzyme defect and the site involved. The salient features of each form of MPS are listed and discussed in this review.