Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases


There are 3 entries in this glossary.
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Term Definition
Endoplasmic reticulum (ER)

A substance that in small amounts increases the rate of a specific biochemical reaction. Often enzymes are required for the normal metabolism, or breakdown, of substances in the body.

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A complex pipe-like system of membranes that occupies much of the cytoplasm in cells and which contains many of the enzymes which are responsible for the breakdown of metabolic waste into reuse able parts.

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Enzyme assay

Measurement of enzyme activity with particular substrate, for example an enzyme assay for Tay-Sachs disease measures the Hex A activity with GM2 gangliosides.

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