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Sandhoff disease
Used for:
gangliosidosis GM2 type II
Used for:
hexosaminidase a and b deficiency
Used for:
Sandhoff Jatzkewitz disease
Broader Terms:
enzyme deficiency
Broader Terms:
gangliosidosis
Scope Note:
autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease.
Term Number:
1849-8747
Send your comments to: Melody Lowe