Abstract
Mucopolysaccharidosis are genetically caused large group of clinically severe and progressive multisystem diseases that belong to groups of lysosomal storage diseases. Enzyme dysfuntions involved in degradation of glycosaminoglycans lead to progressive accumulation of glycosaminoglycans in cells with subsequent morphological and functional changes in tissues.
Clinical manifestations in patients with mucopolysaccharidosis are very heterogeneous and varying degrees aff ect almost all tissues. Diagnosis is based on clinical suspicion and increased excretion glycosaminoglycans in the urine, but the specifi c type of disease is established on enzymatic and molecular genetic level.
Therapy depends on the type of the disease. In patients with mucopolysaccharidosis I, II, IV, VI is available causal treatment with enzyme replacement therapy, in patients with more severe mucopolysaccharidosis I and mucopolysaccharidosis VI and VII is indicated transplantation of hematopoietic stem cells and in patients with mucopolysaccharidosis III is tested substrate reduction therapy.