Tay-Sachs disease


Tay–Sachs disease

noun \ˈtā-ˈsaks-\

Definition of TAY-SACHS DISEASE

: a hereditary disorder of lipid metabolism that typically affects individuals of eastern European Jewish ancestry, that is marked by the accumulation of lipids especially in nervous tissue due to a deficiency of hexosaminidase A, that is characterized by weakness, macrocephaly, red retinal spots, hyperacusis, retarded development, blindness, convulsions, paralysis, and death in early childhood, and that is inherited as an autosomal recessive trait—called also infantile amaurotic idiocy, Tay-Sachs; see sandhoff's disease; compare gaucher's disease, niemann-pick disease

Biographical Note for TAY-SACHS DISEASE

Tay, Warren (1843–1927), British physician. Tay specialized in ophthalmology, dermatology, and pediatrics. In 1881 he described a degenerative condition of the choroid found in a genetic disorder of lipid metabolism.
Sachs, Bernard (1858–1944), American neurologist. Sachs was a neurologist associated with several New York City hospitals. In 1887 he published a comprehensive description of a genetic disorder of lipid metabolism. His observations were made independently of Tay. The condition is known as Tay-Sachs disease as an acknowledgment of Sachs' later but more comprehensive account.

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