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lysosomal storage disease


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Hereditary diseases characterized by abnormal lipid storage due to defects in lysosomal enzymes. The accumulation of the trapped intermediates of catabolism results in the cytoplasmic storage of these complex molecules. The storage material is often desposited in myriads of concentrically arranged lamellar structures that accumulate throughout the cytoplasm of certain cell types. For example, in Tay-Sachs disease (q.v.) the targets are ganglion cells, while in Gaucher disease (q.v.) macrophages are the storage sites. See Ashkenazi, lysosomes, Wolman disease.

Subjects: Genetics and Genomics — Chemistry.


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