Alpha-L-iduronidase deficiency: A novel mutation resulting in severe
early presentation of Mucopolyscaridosis type I and litature review of
molecular basis
Abstract
The IDUA gene (MIM 252800) provides instructions for producing
alpha-L-iduronidase, which is essential for the breakdown of
glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to
cause mucopolysaccharidosis type I (MIM 607014). This leads to the
accumulation of GAGs within lysosomes causing different organs to be
dysfunctional.
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