释义 |
Sandhoff disease
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 syndromeSandhoff syndrome - Synonym(s): Sandhoff disease |