Tay–Sachs disease

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noun \ˈtā-ˈsaks-\

Definition of Tay–Sachs disease

  1. :  a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is characterized by the accumulation of lipids especially in nervous tissue due to a deficiency of hexosaminidase, that is inherited as a recessive autosomal trait, and that causes death in early childhood —called also Tay-Sachs

Origin and Etymology of tay–sachs disease

Warren Tay †1927 British physician & Bernard P. Sachs †1944 American neurologist


First Known Use: 1907


Medical Dictionary

Tay–Sachs disease

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noun \ˈtā-ˈsaks-\

Medical Definition of Tay–Sachs disease

  1. :  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 Tay-Sachs; see sandhoff's 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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