Alpha-mannosidosis is a rare, genetic disease, caused by the impaired function of the lysosomal enzyme alpha-mannosidase
Due to this deficiency, oligosaccharides
are only partially broken down and over time they build up in the body
, causing increasing damage to cells and leading to medical problems in many body systems.1,2
Alpha-mannosidosis is a very heterogeneous disease, presenting with a wide range of symptoms: the most frequent are recurrent chest infections and problems with hearing loss, distinctive facial features, cognitive impairment and progressive muscular weakness. Lack of voluntary coordination of muscle movements and skeletal and joint abnormalities could occur. In adulthood, few patients manage to be completely independent socially, needing help with many activities and possibly requiring a wheelchair.1
High levels of oligosaccharides in urine is suggestive of alpha-mannosidosis. Testing of the mannosidase enzyme residual activity and genetic analysis are used to confirm the diagnosis.1 Alpha-mannosidosis is a rare disease, affecting approximately 1 in 1,000,000 babies born worldwide.3
- Malm D, et al., Orphanet Journal of Rare Diseases 2008, 3:21.
- Borgwardt L, et al., Orphanet Journal of Rare Diseases 2015, 10:70.
- Beck M, et al., Orphanet Journal of Rare Diseases 2013, 8:88.