Lysosomal Storage disorders are associated with: (A) Non-disease-specific physical findings, (B) Loss of function, (C) Enzyme assays not useful, (D) Genetic testing is helpless
Answer is B. (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.