Alpha-mannosidosis, a glycoproteinosis, is due to a genetic defect of the lysosomal enzyme alpha-mannosidose that is responsible for the hydrolysis of glycoprotein carbohydrate moieties. The decreased activity of this enzyme leads to accumulation of oligosaccharides in several cells and organs. Alpha-mannosidosi is a slowly progressive disorder that shows a broad phenotypic variability. Clinical features include hearing impairment, skeletal abnormalities, impairment of of mental function, sometimes periods of psychosis. In addition, muscular weakness and ataxia are observed. In the first decade of life recurrent infections occur due to an immune defect.
Etiology: Deficiency of alpha-mannosidase
Gene: MAN2B1 Gene
Mode of inheritance: Autosomal recessive
(Age of onset: infancy)
(Age of onset: childhood, adolescence)
Velmanase alfa (Lamzede®)
At the moment we are not aware of any self-help groups.
At present we have no literature available.