What gene change causes Alpha-mannosidosis?
Alpha-mannosidosis is caused by changes in the MAN2B1 gene.
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What happens because of changes in the MAN2B1 gene?
Genetic changes in the MAN2B1 gene prevent normal production of an enzyme called alpha-mannosidase. This lack of alpha-mannosidase causes the buildup of complex sugars, or oligosaccharides, in different parts of the body. This buildup of oligosaccharides can cause intellectual disability, pronounced or "coarse" facial features, and skeletal problems like abnormally shaped back bones (vertebrae), thickened bones at the top of the skull, reduced bone density (osteopenia), bowed legs, and knock-knee abnormalities. People with Alpha-mannosidosis can also have medical problems such as frequent infections, hearing loss, vision loss from cloudy corneas, enlargement of the liver and spleen, muscle weakness and problems coordinating movement (ataxia).
Does anything make Alpha-mannosidosis worse?
As of June 4, 2016, there are no known environmental, pharmaceutical, or other factors that may make this condition more severe.
Is the MAN2B1 gene change a predisposition or a cause?
Genetic changes in the MAN2B1 gene are the cause of Alpha-mannosidosis.