Alpha Mannosidosis is a rare genetic disease that usually emerges in childhood. Persons who have the disease are completely or partially deficient in the enzyme alpha-D-mannosidase, which means that substances which contain the carbohydrate mannose are stored in the cells instead of being broken down and used normally. This leads to many different organs, the brain, eyes and skeleton for example, being affected and damaged. The degree of severity of alpha mannosidosis varies considerably between different persons with the disease, also within the same family. The disease exists in three forms (mild, moderate and severe), which differ in terms of severity of symptoms and age of onset. The moderate form is most common.
Everybody who has the disease experiences loss of hearing and many have speech problems and recurrent infections in the ear and upper respiratory tracts. Persons with alpha mannosidosis often have a characteristic appearance, which becomes more prominent over the years. Other common symptoms are impaired muscle tension, difficulties coordinating movements and intellectual disability. If the skeleton is affected, it can lead to pain and diminished mobility. Pain and weakness in muscles and joints also occurs.
Correct diagnostics have a major significance in selection of treatment and for the patient to have early contact with the specialist doctor needed. The diagnosis is made through various laboratory analyses and is confirmed by DNA-based diagnostics.
The treatment is targeted at ameliorating symptoms, preventing complications and compensating for disabilities. Pain from muscles and skeleton can be treated with analgesic drugs.
For patients with mild to moderate forms of the disease, the possibility exists to add the missing enzyme (so-called enzyme replacement therapy), which can prevent the disease from becoming worse. For some patients, a hematopoietic stem cell transplant has a positive effect on the disease's development. Talk to your doctor if you would like to have more information about treatment of Alfa Mannosidosis.