Tay-Sachs disease


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Tay-Sachs disease

 (tā′săks′)
n.
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.]

Tay-Sachs disease

(ˌteɪˈsæks)
n
(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]

Tay′-Sachs′ disease`

(ˈteɪˈsæks)

n.
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]

Tay-Sachs disease

(tā′săks′)
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.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.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
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
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
References in periodicals archive ?
1938 "Family Idiocy (Tay-Sachs disease)." Journal of the Michigan State Medical Society 37:983-85.
Subsequent reports showed detection of several additional LSDs in DBS by this method, including Pompe, Fabry, Gaucher, Sandhoff, Nieman-Pick, and Tay-Sachs disease (13-16).
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews; A comparison of DNA-based and enzyme based tests.
An inability to break down this sphingolipid produces Tay-Sachs disease in humans.
Scientists there are planning to begin examining three-day-old human embryos for the genetic defect that causes Tay-Sachs disease.
Genetic tests now permit prenatal screening for a number of genes ranging from those causing severe debilitation and death such as Tay-Sachs disease to milder forms of handicap.
Tests revealed he had Tay-Sachs disease - a rare and usually fatal genetic disorder that causes progressive damage to the nervous system.
Melanie and Dudley were both found to be carriers for Tay-Sachs disease, a lethal condition.
These isoenzymes are frequently assayed, partly because of the existence of international heterozygote screening programs for Tay-Sachs disease and because of their challenging and complex clinical chemistry (7,1113 ).
Consider a man and woman, both of whom carry the mutant gene for the lethal Tay-Sachs disease. They don't want to pass on two mutant genes, and thus the disease, to their children.
The authors also discuss "wrongful life" and "wrongful birth" litigation where testing was not done and babies were born with Tay-Sachs disease or cystic fibrosis.
Besides determining their blood type, karyotype, and fertility status, we test for hepatitis, syphilis, gonorrhea, human immunodeficiency virus antibodies, Tay-Sachs disease, and sperm-associated antibodies.