Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis

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.

Keywords

• Neurologic manifestations
• Natural history
• Lysosomal storage diseases
• Oligosaccharides