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Alpha mannosidosis type 2
Other Names for this Disease
- Alpha-mannosidosis adult-onset form
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lysosomal storage disorder. Signs and symptoms develop as a result of the toxic build-up of sugars (i.e., mannose-containing oligosaccharides) in the cells of the body. People with this disorder tend to develop bone abnormalities and muscle weakness by age 10. Signs and symptoms vary, but often include mild to moderate intellectual disability, hearing loss, weakened immune system, distinctive facial features, and cerebellar disorders (e.g., ataxia). Symptoms slowly worsen over time. This disorder is caused by a mutation in MAN2B1 and is inherited in an autosomal recessive fashion.Alpha mannosidosis type 2 is a
Last updated: 10/1/2013
- Alpha-Mannosidosis. Genetic Home Reference. 2007; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. Accessed 10/1/2013.
- Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; http://www.ncbi.nlm.nih.gov/books/NBK1396/. Accessed 10/1/2013.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alpha mannosidosis type 2. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha mannosidosis type 2. Click on the link to view a sample search on this topic.