| | Definition: | | A hereditary metabolic disorder caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage. Symptoms include skeletal deformities, mental retardation, severe coronary artery disease, deafness, and stiff joints, among other things. There are mild and severe forms of the syndrome; the mild form is called Scheie Syndrome, the severe form is called Hurler Syndrome, and children with an intermediate form have Hurler-Scheie Syndrome. Patients with the severe form usually die from respiratory and cardiac failure before the age of ten. There is presently no cure. Hurler’s Syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter’s Syndrome. For more information, visit MPS II - Hurler's Syndrome and The National Organization for Rare Disorders -- Hurler's Syndrome. |
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