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Tay Sachs disease
Used for:
gangliosidosis GM2 type I
Used for:
hexosaminidase A deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
gangliosidosis
Related Terms:
autosomal recessive trait
Scope Note:
autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
Term Number:
1849-8690
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