Catalog

Mucopolysaccharidosis type 1H

No MMS code

Link to WHO Definition

Mucopolysaccharidosis type 1H – http://id.who.int/icd/entity/1925191093

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterised by skeletal deformities and a delay in motor and intellectual development. Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features, cardiomyopathy and valvular abnormalities and progressive cognitive and sensorial deterioration.