Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis
Fabiano de Oliveira Poswar, Tamires Silva Alves, Daniel Rocha de Carvalho, Hélio van der Linden, Charles Marques Lourenço, Dafne Dain Gandelman Horovitz, Anneliese Barth, Carmen Silvia Curiati Mendes, Ana Maria Martins, Roberto Giugliani
TL;DR
This paper presents the first detailed study of alpha-mannosidosis in Brazil, summarizing clinical features and diagnostic challenges in 14 patients.
Contribution
The first comprehensive clinical report on alpha-mannosidosis in Brazil, highlighting local disease manifestations and diagnostic delays.
Findings
The study analyzed 14 Brazilian patients with alpha-mannosidosis diagnosed between 2001 and 2021.
Common symptoms and diagnostic delays were identified, providing insights into the disease's clinical profile in the region.
Abstract
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.
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Taxonomy
TopicsLysosomal Storage Disorders Research · Research on Leishmaniasis Studies · Trypanosoma species research and implications