Mucopolysaccharidoses: A review. Diagnostic features and therapeutic advance

The mucopolysaccharidoses (MPS) are a group of heritable lysosomal storage diseases caused by the deficiency of specific enzymes catalyzing the stepwise degradation of glycosaminoglycans (or mucopolysaccharides). Lysosomal accumulation of undegraded glycosaminoglycans may cause cell and organ dysfunction depending on the enzyme deficiency. There are eleven known enzyme deficiencies giving rise to seven distinct MPS. They share many common clinical signs, from severe multi-system involvement to mild skeletal or neurologic impairment. We hereby report the fundamental features of each MPS, which have been listed and discussed according to the actual potential therapeutic perspectives.