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lysosomal storage disease

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Term Definition
lysosomal storage disease

Lysosomal Storage diseases are a group of inherited genetic defects which result in an enzyme deficiency. The usual effect of this is to prevent the lysosome in the cells of the body from performing its natural recycling function, and various materials are inappropriately stored in the cell.

In some of the diseases the enzyme may be present but there are problems with transport of the enzyme into the lysosome, but often causing a similar set of problems. The diseases lead to a variety of progressive physical and/or mental deterioration over time.

Definition from Lysosomal Diseases New Zealand website:lysosomal storage disease

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