Pediatria pre prax 4/2013

Lysosomal storage diseases: current diagnostic and therapeutic options (continued)

The second part of the paper on lysosomal storage diseases deals with mucopolysaccharidoses (MPS), a group of storage diseases that are caused by a deficiency of some of the lysosomal enzymes responsible for the degradation of glycosaminoglycans (acid mucopolysaccharides) that subsequently build up in various organs. The clinical manifestations vary to a great degree; what MPS have in common is progressive nature of the involvement and a very poor prognosis. The mode of inheritance of these diseases is autosomal recessive (except for MPS II – X-linked inheritance). Currently available treatments include enzyme replacement therapy for the types MPS I, II, and VI, and substrate reduction therapy for MPS III. In conclusion, the paper emphasizes the need for both a comprehensive, multidisciplinary approach to the treatment of patients and their follow-up at central facilities that have sufficient experience with the treatment of patients with these rare conditions.

Keywords: mucopolysaccharidosis, glycosaminoglycans, diagnosis, enzyme replacement therapy, substrate reduction therapy.