Catalog

Beta-mannosidosis

No MMS code

Link to WHO Definition

Beta-mannosidosis – http://id.who.int/icd/entity/1578707401

Beta-mannosidosis is a rare lysosomal disorder that belongs to the group of oligosaccharidoses. It is characterised by the intracellular accumulation of a disaccharide due to the deficient activity of lysosomal beta-mannosidase. Clinical manifestations include intellectual deficit, hearing loss, sometimes neurological symptoms such as hypotonia and convulsions, dysmorphic features, and repeated respiratory infections.