Beta-mannosidosis

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Beta-mannosidosis

Beta-mannosidosis (pronounced: be-ta-man-no-si-do-sis) is a rare lysosomal storage disorder characterized by the body's inability to break down certain sugars. The condition is caused by mutations in the MANBA gene.

Etymology

The term "Beta-mannosidosis" is derived from the enzyme "beta-mannosidase," which is deficient in individuals with this disorder. "Beta" refers to the type of chemical bond the enzyme breaks, "mannosidase" refers to the type of sugar molecule it acts upon, and "-osis" is a common suffix in medical terminology indicating a disorder or disease.

Symptoms

Symptoms of Beta-mannosidosis can vary widely among affected individuals. They may include intellectual disability, developmental delay, hearing loss, speech difficulties, and distinctive facial features. Some individuals may also have immune system problems, recurrent infections, and an enlarged liver and spleen.

Diagnosis

Diagnosis of Beta-mannosidosis is based on the presence of characteristic clinical features, specialized laboratory tests that measure the activity of the beta-mannosidase enzyme, and identification of a mutation in the MANBA gene.

Treatment

There is currently no cure for Beta-mannosidosis. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Regular follow-up with a team of specialists is recommended to monitor and manage the condition.

Prognosis

The prognosis for individuals with Beta-mannosidosis varies depending on the severity of symptoms. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe complications.

See also

External links

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