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c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications
Iliana Peña-Gomar1, José L Jiménez-Mariscal1, Magdalena Cerón2
1Hospital Pediátrico Tacubaya, Secretaría de Salud, Ciudad de México, Mexico.
The Protein Journal
|January 3, 2021
Summary
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder. A specific mutation (p.Ser633Trp) in the alpha-L-iduronidase gene significantly impacts enzyme structure and activity, leading to severe MPS I symptoms.
Area of Science:
- Genetics
- Biochemistry
- Molecular Biology
Background:
- Mucopolysaccharidosis type I (MPS I) is a rare, autosomal recessive lysosomal storage disorder.
- It results from deficient alpha-L-iduronidase (IDUA) enzyme activity, leading to glycosaminoglycan accumulation.
- MPS I presents with diverse clinical phenotypes, from severe Hurler to milder Scheie forms.
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