Mucopolysaccharidosis I

**Definition:** A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.

**Tree numbers:** - C16.320.565.202.715.640 - C16.320.565.595.600.640 - C17.300.550.575.640 - C18.452.648.202.715.640 - C18.452.648.595.600.640

**Synonyms:** - Lipochondrodystrophy - Mucopolysaccharidosis 1 - Mucopolysaccharidosis Type I