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Lysosomes are membrane-bound cellular organelles that contain multiple hydrolases needed for the digestion of various macromolecules including mucopolysaccharides, glycosphingolipids, cholesterol esters and oligosaccharides. Moreover, the lysosome is emerging as a central hub for nutrient signaling and autophagy to maintain cellular homeostasis. A schematic of the lysosomal system enzyme trafficking and substrate accumulation is shown in Figure 32.1. The lysosomal storage diseases are a group of over 50 diseases that are characterized by defective lysosomal function, leading to an accumulation of specific substrates within the lysosomes and eventual impairment of cellular function that can progress to organ failure. The liver is involved as part of a multisystemic disease in most lysosomal disorders with a wide range of presentations from asymptomatic hepatomegaly with mild abnormalities of liver enzymes to life-threatening liver dysfunction.
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