Hurler syndrome is a rare, hereditary, lysosomal storage disease that arises from a deficiency or absence of the enzyme iduronidase (IDUA), which is needed to break down complex sugars produced by the body.

Hurler syndrome affects the brain and spinal cord in children, resulting in debilitating signs and symptoms that include developmental delay, progressive mental decline, loss of physical function, impaired language development (due to hearing loss and an enlarged tongue), corneal and retinal damage, carpal tunnel syndrome, and restricted joint movement.

Hurler syndrome affects approximately 3,000 patients worldwide, with approximately 6.7 percent in U.S.1 Hurler syndrome is also known as mucopolysaccharidosis I or MPS I.

Andrew Himes - Hurler syndrome


Reference:

1 Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke. NINDS, April 16, 2014. http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm