Skip to Main Content
ALL DEFINITIONS

Hurler Syndrome, Mucopolysaccharidosis Type I

Definition

Hurler syndrome, also known as mucopolysaccharidosis type I, is a rare genetic disorder characterized by the deficiency of an enzyme called alpha-L-iduronidase. This deficiency leads to the accumulation of complex carbohydrates called glycosaminoglycans in various tissues and organs, causing progressive damage and a wide range of symptoms.