beta-mannosidosis

n. See 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.

单词	beta-mannosidosis
释义	beta-mannosidosis beta-mannosidosis n. See 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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