beta-mannosidosis

(redirected from beta-mannosidase deficiency)

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.
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