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lysosomal alpha-mannosidosis
Genetics:
- associated with defects in MAN2B1
Pathology:
- lysosomal storage disease
- accumulation of unbranched oligosaccharide chains expressed histologically as cytoplasmic vacuolation predominantly in the CNS & parenchyma
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:
a) mental retardation
b) recurrent infections
c) impaired hearing
d) Hurler syndrome like skeletal changes
Laboratory:
- MAN2B1 gene mutation
Related
lysosomal beta-mannosidosis
General
lysosomal storage disease
Database Correlations
OMIM 248500
References
OMIM :accession 248500