Hurler syndrome

Hurler syndrome is a rare genetic disorder caused by a deficiency of an enzyme called alpha-L-iduronidase. This enzyme helps break down certain complex carbohydrates in the body. When it’s missing or not working properly, these substances build up in cells, leading to progressive damage. Symptoms often include distinctive facial features, joint stiffness, organ enlargement, and developmental delays. Usually evident in early childhood, Hurler syndrome requires medical management to address symptoms and improve quality of life. It is inherited in an autosomal recessive pattern, meaning both parents must carry and pass on the faulty gene.