Abstract
Mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by low activity of some of lysosomal hydrolytic enzymes degrading the glycosaminoglycans (originally mucopolysaccharides). All forms of the disease share a lot of common features, although particular MPS types differ one from each other.
Clinical signs evolve gradually and depend on the MPS type and its severity. They include hepato-/splenomegaly, umbilical and/or inguinal hernia, craniofacial dysmorphy with coarse facial features, recurrent upper respiratory tract infections, middle ear infections, hearing disorder, cardiac valve involvement or combined pulmonary involvement.
Bone involvement with short stature, backbone deformities and characteristic X-ray changes outlined as dysostosis multiplex are constant features. Cognitive impairment is variable.
The enzyme replacement therapy (ERT) has brought a significant change to the prognosis of patients with MPS. It improves the visceral involvement together with the patients' quality of life.
It has no effect upon CNS impairment. The early diagnosis and therapy introduction is essential for its maximal benefit.