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.

Supportive care and symptomatic relief are the recommended management options for Sialidosis because treatment options are restricted and incomplete to specifically treat Sialidosis.

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 is caused by insufficiency of the alpha-neuraminidase enzyme.

sialidosis