Sialidosis
Sialidosis Causes
Sialidosis is caused by insufficiency of the alpha-neuraminidase enzyme.
Sialidosis Definition
Sialidosis is a very rare inherited metabolic disorder characterized by an insufficiency of the enzyme alpha-neuraminidase. This insufficiency leads to the abnormal accumulation of mucopolysaccharides (complex carbohydrates) and mucolipids (fatty substances) in most tissues of the body. Sialidosis belongs to a group of disorders that are known as lysosomal disorders. It is also known by other names like Mucolipidosis I, Sialidase deficiency, and Alpha-neuraminidase Deficiency.
Sialidosis Symptoms and Signs
Symptoms of Sialidosis may be present at birth or develop within the first year of life. The symptoms of Sialidosis may include: ? Abrupt and impulsive involuntary muscle contractions ? Appearance of red spots in the eyes known as cherry-red macules ? Excessive swelling throughout the whole body immediately noticed at birth ? Coarse, facial features like puffy eyelids, flat nasal bridge, gum enlargement and excessive size of the tongue ? In some cases, infants may be born with skeletal malformation like dislocated hips ? Unable to coordinate voluntary movement ? Impaired vision ? Seizures and tremors ? Liver and spleen enlargement that causes abdominal swelling ? Failure to thrive ? Lack of muscle tone ? Recurrent respiratory infections
Sialidosis Treatment
Supportive care and symptomatic relief are the recommended management options for Sialidosis because treatment options are restricted and incomplete to specifically treat Sialidosis.