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 one in every million babies born worldwide.3
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