Alpha-mannosidosis is a lysosomal storage disorder caused by deficient alpha-mannosidase activity due to pathogenic variants in MAN2B1.[1][2] Progressive substrate accumulation can affect hearing, cognition, immune function, skeletal development, and the nervous system.
Alpha-mannosidosis is relevant to NeuroWiki because it links inherited lysosomal dysfunction to neuronal vulnerability, neurodevelopmental impairment, and long-term neurodegenerative stress pathways.[1:1][2:1] It also serves as a concrete disease target for pages on lysosomal biology and enzyme replacement.
Alpha-mannosidosis: clinical features and diagnosis. European Journal of Paediatric Neurology (2000). ↩︎ ↩︎
MAN2B1 mutations in alpha-mannosidosis. Human Molecular Genetics (2004). ↩︎ ↩︎