beta-mannosidosis(redirected from lysosomal beta-mannosidase deficiency)
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
beta-mannosidosisAn 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.
Defects in MANBA, which encodes lysosomal mannosidase, cause beta-mannosidosis.
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