5 Facts you should know about

Hurler syndrome

Hurler syndrome is a rare genetic disorder classified as a mucopolysaccharidosis (MPS) type I, caused by a deficiency of the enzyme alpha-L-iduronidase, leading to the accumulation of complex sugars (glycosaminoglycans) in cells

This condition is inherited in an autosomal recessive pattern, caused by mutations in the IDUA gene. Without the functional enzyme, the body can't break down certain molecules, resulting in progressive damage to tissues and organs

Symptoms often manifest in early childhood and may include coarse facial features, skeletal abnormalities, enlarged organs, joint stiffness, hernias, hearing loss, and cognitive decline. The severity of symptoms varies widely

Diagnosis involves clinical evaluation, urine and blood tests to detect elevated levels of glycosaminoglycans, genetic testing to confirm IDUA gene mutations, and often consultation with specialists for various organ system assessments

Treatment aims to manage symptoms and may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), supportive care, physical therapy, and surgeries to address specific complications

See our full disease profile

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