What is Alpha-mannosidosis?
Alpha-mannosidosis is a genetic condition that causes a progressive storage disorder in the organs of the body. Genetic changes or, mutations, in the MAN2B1 gene cause complex sugar molecules called oligosaccharides to build up in different parts of the body. This buildup of oligosaccharides causes health problems for people with Alpha-mannosidosis, which is why it is caused a storage disorder or, more specifically, a lysosomal storage disorder. The main health problems the buildup of oligosaccharides can cause in people with Alpha-mannosidosis include 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).
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/mannosidosis-alpha-b-lysosomal/overview/9063 • DATE UPDATED: 2016-05-13