Alpha-Mannosidosis

What is alpha-mannosidosis?

Alpha-mannosidosis is caused by the body not having enough of a specific enzyme called alpha-mannosidase. Without normal levels of this enzyme, extra sugars, called oligosaccharides, build up in the cells of the body causing the cells to not work properly. People with alpha-mannosidosis may have developmental delay, difficulty hearing, bone structure changes, distinct facial features, a weakened immune system and trouble with balance. Symptoms can range from severe (noticeable at birth) to mild (starting after the age of 10).

How common is alpha-mannosidosis?

About 1 in 500,000 babies are born with alpha-mannosidosis each year.

What can be done for alpha-mannosidosis?

Identifying this condition early (soon after birth) may lead to reduced symptoms and an improved quality of life. A bone marrow transplant can treat or improve some of the symptoms. Also, a promising form of treatment that replaces the missing enzyme in the body is under investigation.

How is alpha-mannosidosis inherited?

Alpha-mannosidosis is caused by changes in the MAN2B1 gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the MAN2B1 gene, one from each parent, in order to have the disease. People who have only one copy of the altered MAN2B1 gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for alpha-mannosidosis on the Eli screen, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/alpha-mannosidosis#diagnosis
https://www.ncbi.nlm.nih.gov/books/NBK1396/

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