Lysosomal Storage disorders are associated with
(B) Loss of function # Lysosomal storage disorders (LSDs) are inherited diseases characterized by lysosomal storage and dysfunction.> Loss of lysosomal function is associated with severe neurodegeneration, which is the prominent pathological hallmark of LSDs.> Physical findings are disease-specific, and enzyme assays or genetic testing can be used to make a definitive diagnosis.
Non-disease-specific physical findings
Loss of function
Enzyme assays not useful
Genetic testing is helpless
Miscellaneous