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lysosomal beta-mannosidosis
Pathology:
- lysosomal storage disease of glycoprotein catabolism
- profound reduction in beta-mannosidase activity in plasma, fibroblasts & leukocytes
Genetics:
- autosomal recessive
- associated with defects in MANBA
Clinical manifestations:
- heterogeneous with a wide range of symptoms & age of onset
- range of neurological involvement, including
a) various degrees of mental retardation
b) hearing loss & speech impairment
c) hypotonia
d) epilepsy
e) peripheral neuropathy
Laboratory:
- beta-mannosidase activity in plasma is diminished
Related
lysosomal alpha-mannosidosis
General
enzyme deficiency
lysosomal storage disease
Database Correlations
OMIM 248510
References
OMIM :accession 248510