Alpha-mannosidosis
Alpha-mannosidosis
Alpha-mannosidosis (pronounced: al-fa-man-o-si-do-sis) is a rare lysosomal storage disorder characterized by the body's inability to break down certain sugars. The condition affects many parts of the body and can lead to a wide range of health problems.
Etymology
The term "Alpha-mannosidosis" is derived from the enzyme "alpha-mannosidase," which is deficient in individuals with this disorder. The suffix "-osis" indicates a condition or disease.
Symptoms
Symptoms of Alpha-mannosidosis can vary widely among affected individuals. They may include intellectual disability, hearing loss, muscle weakness, coarse facial features, enlarged liver and spleen, and immune system problems.
Causes
Alpha-mannosidosis is caused by mutations in the MAN2B1 gene. This gene provides instructions for making an enzyme called alpha-mannosidase, which is involved in the breakdown of complex sugars derived from glycoproteins. Mutations in the MAN2B1 gene reduce or eliminate the activity of this enzyme, preventing these sugars from being broken down and causing them to accumulate in cells.
Diagnosis
Diagnosis of Alpha-mannosidosis is based on a clinical examination, identification of characteristic symptoms, a detailed patient history, and a variety of specialized tests. These tests may include enzyme analysis, molecular genetic testing, and urine tests.
Treatment
There is currently no cure for Alpha-mannosidosis. Treatment is symptomatic and supportive, and may include physical therapy, special education, hearing aids, and other medical or surgical treatments as needed.
Prognosis
The prognosis for individuals with Alpha-mannosidosis varies depending on the severity of symptoms. Some individuals have a normal lifespan with mild symptoms, while others may have severe complications and a shortened lifespan.
See also
External links
- Medical encyclopedia article on Alpha-mannosidosis
- Wikipedia's article - Alpha-mannosidosis
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