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Lora Spicer

on 14 December 2015

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By: Lora Adams
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body.
When is birth defect detected?
Measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be comfirmed by genetic testing.
How it is detected
If they live to be older may have permanent heairng loss, stop growing and conditions can get worse.
Long term effects
Aplha-mannosidosis is caused by a mutation in the MAN2B1 gene.
Alpha-mannosidosis occurs in 1 of 500,000 live births
immune deficiency (recurrent infections)
skeletal abmormalities
hearing impairment
gradual impairment of mental functions and speech
muscular weakness
joint abnormalities
sometimes have large heads, flattened nasal brige, and widely spaced teeth.
Symptoms dont usually show or develop until after the first year of birth.
Treatments for alpha-mannosidosis
Tubes in ear for the fluid and most often hearing aids are needed.
Muscle therapy (recommended)
Enzyme replacement therapy.
Bone marrow transplants
There is no cure for alpha-mannosidosis
Sources cited
"Alpha-mannosidosis." Luke Chaplin and Alpha Mannosidosis. N.p., n.d. Web. 21 Mar. 2013.
& Now
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