Lysosomal storage disorders are a group of diverse inherited metabolic diseases that result from the disruption of the lysosomal system and catabolism of macromolecules (for review, see Reference 9). Mutations in genes encoding hydrolyzing enzymes, activator proteins, lysosomal membrane proteins, or proteins involved in the posttransla-tional modification or transport of lysosomal proteins can cause such storage disorders. More than 40 lysosomal storage disorders are known, and they have a collective incidence of approximately 1 in 5,000 to 8,000 live births in the United States. Most of the genes responsible for lysosomal storage disorders have been cloned, permitting gene mutation testing once a diagnosis is established by biochemical analyses. This information is valuable for genotype-phenotype correlation, selection of therapy, and genetic counseling. In this section, two lysosomal storage disorders are discussed: Tay-Sachs disease, which serves as a model for population screening, and Gaucher disease, for which much effort has been concentrated on genotype-phenotype correlations.
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