A type of lysosomal storage disease that is often caused by a deficiency of the enzyme sialidase resulting in the accumulation of mucolipids in tissues, and thereby leads to symptoms associated with this condition
Sialidosis is a hereditary metabolic disorder. It is one of the many types of lysosomal storage disease, which is characterized by an abnormal accumulation of certain metabolic products due to a deficiency of a particular functional lysosomal enzyme. In this regard, sialidosis is a disorder caused by a deficiency of the enzyme, alpha-N -acetyl neuraminidase (also called sialidase). The underlying cause of this deficiency is often due to pathological mutations in the NEU1 gene. The lack of this enzyme results in the abnormal accumulation of mucopolysaccharides and mucolipids in tissues.
Sialidosis is also referred to as mucolipidosis type I. Mucolipidosis is a lysosomal storage disease characterized by the accumulation of mucolipids and mucolipopolysaccharides in tissues due to the deficiency of functional N-acetylglucosamine-1-phosphotransferase. At present, though sialidosis is classified as a type of glycoproteinosis rather than of mucolipidosis.
Sialidosis have symptoms similar to Hurler syndrome. However, the symptoms are milder. In sialidosis, there is mild dysostosis multiplex and moderate mental retardation.
- mucolipidosis I