Lysosomes are heterogeneous subcellular organelles containing specific hydrolyses that allow selective processing or degradation of proteins, nucleic acids, carbohydrates, and lipids. There are >40 different lysosomal storage diseases, classified based on the nature of the stored material (Table 361-1). Several of the most prevalent disorders are reviewed here, including Tay-Sachs disease, Fabry's disease, Gaucher's disease, Niemann-Pick disease, the mucopolysaccharidosis, and Pompe's disease. Lysosomal storage diseases should be considered in the differential diagnosis of patients with neurologic, renal, or muscular degeneration and/or unexplained hepatomegaly, splenomegaly, cardiomyopathy, or skeletal dysplasias and deformations. Physical findings are disease-specific, and enzyme assays or genetic testing can be used to make a definitive diagnosis. Although the nosology of these diseases segregates the variants into distinct phenotypes, these are heuristic and, in the clinic, each disease exhibits, more or less, a continuous spectrum of manifestations from severe to attenuated variants.

Table Graphic Jump Location
Table 361-1 Selected Lysosomal Storage Diseases 

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