Dictionary of Human Evolution and Biology

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Tay-Sachs Disease, Infantile

Lethal autosomal recessive condition characterized clinically by a startle reaction (due to nervous tissue degeneration), mental impairment, paralysis, blindness, and inevitable death in infancy. The defective gene, hexA, codes for the alpha chain subunit of beta-hexosaminosidase A, found in lysosomes; the mutant form interrupts lipid metabolism, causing irreversible problems in the central nervous system. Two common mutations account for more than 90% of all cases. Other variants of TSD exist, i.e. mutations in hexB. As many as 1: 30 Jewish Americans of Eastern European ancestry may be carriers of an impaired TSD allele. Aka amaurotic, familial infantile idiocy, cerebromacular degeneration GM2 gangliosidosis.

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