Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia

Abstract

Mucopolysaccharidosis I (MPS I) is severe metabolic storage disease caused by impaired function of alpha-L-iduronidase. The aim of this study is to describe clinical symptoms, natural course and to evaluate results of treatment in Czech and Slovak children with MPS I.

Keywords

• Mucopolysaccharidosis
• glycosaminoglycans
• lysosomal storage disorders
• enzyme replacement therapy