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Tay-Sachs disease An inherited condition characterized by the absence of a single lysosomal enzyme called Hex A, which normally breaks down a membrane glycolipid called ganglioside G_M2 that is especially prevalent in nerve cells; usually occurs in children of Ashkenazi (eastern European Jewish) descent and is characterized by seizures and muscle rigidity.
Inheritance: Autosomal recessive Cause: Lysosomal storage disease Gene: 4bp insertion in HEXA gene, chromosome 5 Symptoms: Persistent startle reaction, progressive neurodegeneration (developmental retardation, paralysis, dementia, blindness), death by age 2-3