Sandhoff disease

(redirected from B variant of the Hexosaminidase GM2 gangliosidosis)
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Sand·hoff dis·ease

(sahnd'hof), [MIM*268800]
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.

Sandhoff disease

(sănd′hôf′)
n.
A form of gangliosidosis that resembles Tay-Sachs disease but rarely affects persons of Jewish descent, characterized by a defect in the production of two forms of hexosaminidase.

Sand·hoff dis·ease

(sahnd'hof di-zēz')
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.

Sandhoff,

K., contemporary German biochemist.
Sandhoff disease - a lysosomal storage disease. Synonym(s): Sandhoff syndrome
Sandhoff syndrome - Synonym(s): Sandhoff disease