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Sandhoff disease

Pronunciation: sahnd'hof

Definition: an infantile form of GM2 gangliosidosis characterized by a defect in the production of hexosaminidases A and B; it resembles Tay-Sachs disease, but occurs predominantly (if not entirely) in non-Jewish children; accumulation of glucoside and ganglioside GM2, caused by mutation in hexoaminidase B gene (HEX B) on chromosome 5q.

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