α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
In conclusion, this work brings data for the beginning of a genetic characterization of α-mannosidosis in the Brazilian population. It also shows that α-mannosidosis cases may be underdiagnosed due to the clinical similarity to MPS and the lack of information about this ultra-rare disease. Based on our data, we strongly recommend to all screening centers to consider α-mannosidosis testing together with screening for MPS as a tool for diagnosis to MPS-like phenotype individuals, since the phenotype similarity between these diseases poses a significant challenge for clinicians worldwide and often leads to the failure of the correct clinical diagnosis and treatment.
Authors
- Maryana Mara Marins
- Renan Paulo Martin (ORCID: https://orcid.org/0000-0002-6747-8784)
- Joyce Umbelino da Silva Yamamoto (ORCID: https://orcid.org/0009-0002-0300-2696)
- Vânia D’Almeida (ORCID: https://orcid.org/0000-0003-0947-5312)
- João Bosco Pesquero (ORCID: https://orcid.org/0000-0002-4507-632X)
- Priscila Nicolicht-Amorim
- Caio Perez Gomes (ORCID: https://orcid.org/0000-0002-6553-7701)
- Marco A. Curiati (ORCID: https://orcid.org/0000-0002-2383-1793)
- Ana Maria Martins
Institutions
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-26
- DOI
- https://doi.org/10.1186/s13023-024-03419-z
- Citations
- 3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.98
Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Center for Research Excellence and Incubation Management, Universiti Sultan Zainal Abidin