Lysosomal diseases

Lysosomal diseases

diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death.

See: the following conditions: hurler sundrome, hunter syndrome, San Fillipo, gauchers disease, Niemann-Pick, pompes disease, Tay Sachs disease.

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