Tay-Sachs disease


Tay–Sachs disease

noun \ˈtā-ˈsaks-\

Definition of TAY-SACHS DISEASE

:  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 of TAY-SACHS DISEASE

Warren Tay †1927 British physician & Bernard P. Sachs †1944 American neurologist
First Known Use: 1907

Tay–Sachs disease

noun \ˈtā-ˈsaks-\   (Medical Dictionary)

Medical 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.

Tay-Sachs disease

noun    (Concise Encyclopedia)

Recessive hereditary metabolic disorder, mostly in Ashkenazi Jews, causing progressive mental and neurologic deterioration and death by age five. A lipid, ganglioside GM, accumulates in the brain (because of inadequate activity of the enzyme that breaks it down), with devastating neurological effects. Infants appear normal at birth but soon become listless and inattentive, lose motor abilities, and develop seizures. Blindness and general paralysis usually precede death. Tests can detect the disease in fetuses and the Tay-Sachs gene in carriers. There is no treatment.

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