Sialidosis

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Sialidosis

Sialidosis (pronounced: sy-uh-li-doh-sis) is a rare, genetic metabolic disorder characterized by a deficiency of the enzyme neuraminidase, also known as sialidase. This deficiency leads to an abnormal accumulation of certain substances, known as sialyloligosaccharides, in various tissues and organs of the body.

Etymology

The term "Sialidosis" is derived from the Greek word "sialon" meaning saliva, and the suffix "-osis" indicating a condition or disorder. The name refers to the accumulation of sialyloligosaccharides in the body due to the deficiency of the enzyme neuraminidase.

Symptoms

The symptoms of Sialidosis vary widely among affected individuals and may include visual impairment, muscle weakness, and developmental delay. In severe cases, individuals may experience seizures, coordination problems (ataxia), and a loss of intellectual function (mental retardation).

Diagnosis

Diagnosis of Sialidosis is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include biochemical tests, molecular genetic testing, and enzyme analysis.

Treatment

There is currently no cure for Sialidosis. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other medical, social, and/or vocational services.

Related Terms

  • Neuraminidase: An enzyme that breaks down sialic acids in the body.
  • Sialyloligosaccharides: Complex sugars that accumulate in various tissues and organs in Sialidosis.
  • Ataxia: A lack of muscle control during voluntary movements, such as walking or picking up objects.
  • Mental retardation: A condition characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living.

External links

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