Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis
Alpha-mannosidosis (AM) is an ultrarare multisystemic disorder caused by alpha-mannosidase deficiency. This is the first comprehensive report on AM in Brazil, analyzing clinical and laboratory data from 14 patients diagnosed between 2001 and 2021. We summarize the patient diagnostic journey in the country, including the most common presenting symptoms, the time from disease onset to diagnosis and discuss other disease manifestations. Our findings may improve the disease awareness and understanding in the country.
Authors
- Tamires Silva Alves (ORCID: https://orcid.org/0009-0009-4891-2686)
- Charles Marques Lourenço (ORCID: https://orcid.org/0000-0002-2296-6098)
- Fabiano de Oliveira Poswar (ORCID: https://orcid.org/0000-0002-0804-2876)
- Hélio van der Linden (ORCID: https://orcid.org/0000-0002-3123-2264)
- Daniel R. Carvalho (ORCID: https://orcid.org/0000-0002-3410-9704)
- Roberto Giugliani
- Dafne Dain Gandelman Horovitz (ORCID: https://orcid.org/0000-0001-7726-4301)
- Ana Maria Martins
- Carmen Mendes
- Anneliese Lopes Barth
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Faculdade de Medicina de São José do Rio Preto (BR)
- Santa Casa Hospital (BR)
- Fundação de Apoio à Universidade Federal de São Paulo (BR)
- Sarah Network of Rehabilitation Hospitals (BR)
- National Institute on Population Medical Genetics (BR)
- Genomic (Brazil) (BR)
- Fundação Oswaldo Cruz (BR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-04-11
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101220
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chiesi Farmaceutici