|
|
Medical Definition of Sandhoff disease
1. A variant of tay-sachs disease. It is caused by a deficiency of hexosaminidases a & b inherited as an autosomal recessive trait, leading to accumulation of g(m2) ganglioside and the sphingolipid globoside in neurons. The diseases manifests clinically as psychomotor retardation and deterioration, blindness, cherry red spot in the macula, hepatosplenomegaly, and death in 1-3 years. (12 Dec 1998)
Lexicographical Neighbors of Sandhoff Disease
Other Resources:
