Article
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Journal of inherited metabolic disease - 1 Jan 2026
Cruz Carlos Robson Costa, Poletto Edina, Silva Larissa Mota, Pasqualim Gabriela, Netto Alice Brinckmann Oliveira, Leistner Sandra, Brusius-Facchin Ana Carolina, Trapp Franciele Barbosa, Matte Ursula, Giugliani Roberto, Baldo Guilherme
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by mutations in the IDUA gene, resulting in decreased activity of the lysosomal enzyme α-l-iduronidase (IDUA) and consequent accumulation of glycosaminoglycans in the lysosomes. There are more than 300 disease-causing variants reported in the IDUA gene, and the mutational profile varies considerably worldwide. In this study, we...
Topics
- Humans
- Mucopolysaccharidosis I
- Brazil
- Iduronidase
- Mutation
- Female
- Child, Preschool
- Child
- Male
- Infant
- DNA Mutational Analysis
- Glycosaminoglycans
- Adolescent