Sanfilippo disease (mucopolysaccharidosis type III): Early diagnosis and treatment

Mucopolysaccharidoses (MPS) are severe, inherited metabolic disorders caused by defective lysosomal degradation glycosaminoglycans (GAGs). The subsequent progressive accumulation of GAGs in cells and tissues in MPS patients results in extensive, severe and progressive disease, generally limiting quality of life and life expectancy. Sanfilippo disease (mucopolysaccharidosis type III, MPS III) is one of the 7 MPSs and is characterized by storage of the GAG heparan sulfate (HS), primarily leading to severe neurological symptoms, caused by rapid deterioration of brain functions. This thesis comprises several studies, all initiated with the purpose to obtain more insight in the pathophysiology of the disease and to improve treatment and care of Sanfilippo patients.