Tay-Sachs disease(redirected from Sachs, Bernard)
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A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in intellectual disability, convulsions, blindness, and, ultimately, death.
[After Warren Tay (1843-1927), British physician, and Bernard, Sachs (1858-1944), American neurologist.]
(Pathology) an inherited disorder, caused by a faulty recessive gene, in which lipids accumulate in the brain, leading to mental retardation and blindness. It occurs mostly in Ashkenazi Jews
[C20: named after W. Tay (1843–1927), British physician, and B. Sachs (1858–1944), US neurologist]
a degenerative brain disorder caused by lack of or deficiency in an essential enzyme, usu. resulting in mental and physical deterioration and death in early childhood.
[1905–10; after Warren Tay (1843–1927), British ophthalmologist, and Bernard Sachs (1858–1944), U.S. neurologist, who described it independently]
A hereditary disease in which the products of fat metabolism accumulate in the nervous system, causing retardation, paralysis, and death by the age of 3 or 4. It mostly affects children of eastern European Jewish descent.
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|Noun||1.||Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood|
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body