Alpha-mannosidosis

Symptoms

What are the main symptoms of Alpha-mannosidosis?

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/symptoms/9069 • DATE UPDATED: 2019-05-30

References

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