Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolyscaridosis type I and litature review of molecular basis
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This paper describes a novel mutation in the IDUA gene that causes alpha-L-iduronidase deficiency, leading to severe early-onset mucopolysaccharidosis type I and GAG accumulation.
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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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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00
- unpaywall
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