lysosomal alpha-mannosidosis

Pathology

• lysosomal storage disease
• accumulation of unbranched oligosaccharide chains expressed histologically as cytoplasmic vacuolation predominantly in the CNS & parenchyma

Genetics

• associated with defects in MAN2B1

Clinical manifestations

• clinical findings vary with age of onset
• severe infantile (type I)
• mild juvenile (type II)
• considerable variation in the clinical expression
• most consistent features include:
  • mental retardation
  • recurrent infections
  • impaired hearing
  • Hurler syndrome like skeletal changes

Laboratory

• MAN2B1 gene mutation

More general terms

• lysosomal storage disease

Additional terms

• lysosomal beta-mannosidosis

Database

• OMIM: https://mirror.omim.org/entry/248500