[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis]

The mucopolysaccharide (MPS) diseases are a group of inherited, progressive, lysosomal disorders due to deficiencies in various enzymes involved in the lysosomal degradation of cellular glycosaminoglycans (GAG). The six MPS-diseases share clinical features, but each has unique characteristics as well. There is a wide variation in clinical symptomatology even within the same enzyme deficiency. The MPS-diseases are very rare, with only 1-2 affected children born yearly in Sweden (100.000 births). Prenatal diagnosis is available for each condition. Bone-marrow transplantation has been utilized to replace the enzyme deficiency in Hurler's syndrome (MPS I) and Maroteaux-Lamy's syndrome (MPS VI) for the past two decades. When performed before 18-24 months of age in Hurler's syndrome, mental development can be preserved. In this overview we present Swedish incidence and prevalence figures for the different forms of mucopolysaccharidosis, typical symptoms at onset, complications, diagnostic methods and a summary of the present status of research, and finally options for future treatment.