Mannosidosis, beta A, lysosomal

Beta-mannosidosis is a very rare genetic disease with about 20 cases reported worldwide. Beta-mannosidosis affects the way the body breaks down some sugar molecules. Individuals with this disease will have some kind of intellectual disability. Individual may have seizures, poor muscle control, and behavior issues. Behavior issues include be extremely shy, aggressive, overly hyper, or more likely to have depression. Not every person with Beta-mannosidosis will show all of the same symptoms. Beta-mannosidosis is an autosomal recessive disease. This means the condition is inherited (passed through families). We inherit our genes in pairs, one from each parent. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease. The gene responsible for Beta-mannosidosis is MANBA. There is no treatment for this disease. Always speak to your doctor about the best personal plan of action.
Description Last Updated: May 12, 2018