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Alpha-Mannosidosis

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.
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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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