Trudności w diagnostyce klinicznej mukopolisacharydoz - historia trzech przypadków

Mucopolysaccharidoses (MPS) belong to genetically determined storage diseases caused by decreased activity of lysosomal hydrolases which crack glycosoaminoglycans. The inheritance is autosomal recesive besides Hunter disease (X-linked, recesive way of inheritance). We presented the clinical description of three mucopolysaccharydoses cases (Hurler disease, Hunter disease and Sanfilippo A disease). Diagnosis was established basing on clinical features and the biochemical tests which are the 'gold' diagnostic standard. The typical symptoms of MPS, heterogenous clinical picture and the late diagnosis establishment were emphasized. MPS course, contemporary diagnostic standards and treatment possibilities on the basis of the latest literature were presented in discussion.