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
  • various degrees of mental retardation
  • hearing loss & speech impairment
  • hypotonia
  • epilepsy
  • peripheral neuropathy

Laboratory

• beta-mannosidase activity in plasma is diminished

More general terms

• enzyme deficiency
• lysosomal storage disease

Additional terms

• lysosomal alpha-mannosidosis

Database

• OMIM: https://mirror.omim.org/entry/248510