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GM2 gangliosidosis

 

Definition: one of the hereditary metabolic disorders; several forms exist, including Tay-Sachs disease, Sandhoff disease, AB variant, and adult onset; characterized by accumulation of a specific metabolite, GM2 ganglioside, due to deficiency of hexosaminidase A or B, or GM2 activator factor.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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