Video - Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Mucopolysaccharide storage disease type 1 also known as Hurler syndrome, is an inherited disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is necessary for breaking down complex molecules called mucopolysaccharides.

When alpha-L-iduronidase is deficient, the mucopolysaccharides are not broken down properly, leading to a buildup of these molecules in the body's cells. This causes a wide range of symptoms, including physical abnormalities, cognitive disabilities, and corneal clouding. Treatment for this condition includes enzyme replacement therapy, bone marrow transplant, and physical and occupational therapy.