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What is Alpha-Mannosidosis?

Alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the alpha-D-mannosidase enzyme.


Alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the alpha-D-mannosidase enzyme.
Acknowledgement of Alpha-Mannosidosis has not been added yet.
Synonyms for Alpha-Mannosidosis has not been added yet.
This disease is caused by mutations of the MAN2B1 gene found on loci 19cen-q12 of chromosome 19, which codes for the production of the lysosomal alpha-mannosidase (LAMAN) enzyme. Without functional LAMAN enzyme to metabolize certain glycoproteins, the glycoproteins would abnormally accumulate in and damage body tissues and organs.
Symptoms may include intellectual and neurological deficit, distinctive facial features, and skeletal problems. Intellectual and neurological deficit would make movement coordination difficult, weaken muscle strength, delay motor skills development, and impair speech, eyesight, and hearing. Such facial features include rounded eyebrows, large ears, flattened bridge of the nose, large tongue, widely spaced teeth, and more. Skeletal problems may vary from osteopenia, calvaria, deformation of the vertebrae, bowed legs, and bone and joint deterioration. In addition, the liver and spleen may be enlarged, and there may be increased risk of infections.
Alpha-mannosidosis is diagnosed through detection of deficient levels or activity of the LAMAN enzyme in leukocytes or fibroblasts.
Diagnostic tests of Alpha-Mannosidosis has not been added yet
Treatment is proactive to treat manifestations and prevent complications. For example, antibiotics would be used to suppress infections, hearing and speech aids may be used, orthopedic surgery may be necessary to fix skeletal abnormalities, and physiotherapy may be used to improve motor skills and coordination.
Most with early-onset form of this disease do not survive past childhood. However, individuals with a milder form of this disease may live past 50 years and experience slowly progressive symptoms later in life.
Tips or Suggestions of Alpha-Mannosidosis has not been added yet.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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