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Mucopolysaccharidosis type I is a multisystem, progressive disorder caused by a deficiency of alpha-iduronidase. This enzyme is involved in the breakdown and recycling of glycosaminoglycans (GAG), which are complex carbohydrate components of cells. Deficiency of the alpha-iduronidase enzyme leads to accumulation of heparan and dermatan sulfate in multiple body tissues and can cause coarse facial features, corneal clouding, cardiac involvement, skeletal dysplasia, joint stiffness and developmental delay. Age of onset and clinical severity is variable.
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