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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...

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Source

Identifiers

PMID: 41582445
DOI: 10.1002/jimd.70144

Genes

IDUA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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