beta-mannosidosis
beta-mannosidosis
beta-mannosidosis
An autosomal recessive lysosomal storage disease (OMIM:248510) of glycoprotein catabolism characterised by a wide range of symptoms with neurologic involvement, including mental retardation of varying severity in most cases, hearing loss, speech impairment, hypotonia, epilepsy and peripheral neuropathy. Beta-mannosidase activity in plasma, fibroblasts and leukocytes is minimal.Molecular pathology
Defects in MANBA, which encodes lysosomal mannosidase, cause beta-mannosidosis.