Sialidosis: A form of mucolipidosis (mucolipidosis type 1 or ) characterized by deficiency of acid alpha-N-acetyl- neuraminidase (sialidase), an enzyme normally found in lysosomes (compartments within a cell that digest and process materials). ML1 is one of the lysosome storage diseases that result in the accumulation and deposition of mucopolysaccharides in various organs, leading to damage and dysfunction. Two types of the condition have been described, varying in severity and age of onset of symptoms. The condition is genetic and inherited in an autosomal recessive pattern.
Reviewed on 9/7/2018