lysosomal alpha-mannosidosis

lysosomal alpha-mannosidosis

A lysosomal storage disease (OMIM:248500) characterised by accumulation of unbranched oligosaccharides, which causes cytoplasmic vacuolation in the CNS and solid organs. It presents in two types:
• Type 1—Severe infantile form.
• Type 2—Mild juvenile form.

Clinical findings
Variable mental retardation, recurrent infections, impaired hearing, Hurler-like skeletal changes.
 
Molecular pathology
Defects of MAN2B1, which encodes an enzyme required for catabolising N-linked carbohydrates released during glycoprotein turnover, cause lysosomal alpha-mannosidosis.
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