LSDs are typically caused by mutations in genes encoding lysosomal enzymes or proteins involved in lysosomal function. These genetic mutations lead to a deficiency or malfunction of specific enzymes required for the breakdown of complex molecules. Common LSDs include Gaucher disease, Tay-Sachs disease, and Pompe disease. Each disorder is associated with the accumulation of specific substrates within lysosomes, leading to cellular dysfunction and clinical manifestations.
