Mannosidosis

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Mannosidosis

Mannosidosis (pronounced: man-oh-si-doh-sis) is a rare genetic disorder characterized by the body's inability to break down certain sugars due to a deficiency of the enzyme alpha-mannosidase.

Etymology

The term "Mannosidosis" is derived from the enzyme "alpha-mannosidase" which is deficient in this condition, and the Greek word "osis" which means "condition" or "disorder".

Symptoms

The symptoms of Mannosidosis can vary widely among affected individuals. They may include intellectual disability, hearing loss, speech impairment, coarse facial features, enlarged liver and spleen (hepatosplenomegaly), recurring infections, and skeletal abnormalities.

Types

There are two types of Mannosidosis:

  • Alpha-mannosidosis - This is the most common type and is further divided into two subtypes: Type I (mild) and Type II (severe).
  • Beta-mannosidosis - This is a very rare type and is usually milder than alpha-mannosidosis.

Diagnosis

Diagnosis of Mannosidosis is based on the clinical symptoms, biochemical tests to measure the level of alpha-mannosidase enzyme, and genetic testing to identify mutations in the MAN2B1 gene.

Treatment

There is no cure for Mannosidosis. Treatment is supportive and aims to manage the symptoms. This may include physical therapy, speech therapy, hearing aids, and antibiotics for infections.

Prognosis

The prognosis for individuals with Mannosidosis varies depending on the severity of the condition. Those with the mild form may live into adulthood, while those with the severe form may have a shortened life expectancy.

See also

External links

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