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.

单词	lysosomal alpha-mannosidosis
释义	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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