Mucopolysaccharidosis type I: current aspects of diagnosis and treatment of children
There are presented data on the type of mucopolysaccharidosis type I (MPS I) in children, the disease which belongs to the lysosomal storage diseases. There are determined severe and mild forms of the disease, diagnosis of the latters presents special difficulties for pediatricians. MPS type I is differed by significant variability of clinical symptoms and poses a multi-disciplinary problem. Currently, there is a specific therapy of MPS I: Hematopoietic Stem Cell Transplantation and administarion of enzyme replacement therapy (drug Aldurazyme ®). The algorithm of treating patients accordingly to the age and disease severity has been developed. Long-term clinical results, the effectiveness of therapy is monitored in MPS register. Systematic evaluation of the health of children with MPS I improves the quality of their life.