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 ?
As an example of the potential of that concept, she discusses the push within the Jewish community for prospective parents to test for Tay-Sachs disease.
But about 10,000 medical conditions are linked to specific mutations, including Huntington's disease, cancers caused by BRCA genes, Tay-Sachs disease, cystic fibrosis, sickle cell anaemia, and some cases of early-onset Alzheimer's.
aspx) Tay-Sachs disease , a fatal genetic disorder.
It a couple discovered their fetus had Tay-Sachs disease or Down syndrome and wanted an abortion, the law denied them that option.
Non-invasive prenatal testing (NIPT) test can detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay-Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.
It is not about questioning God's purposes in the context of Tay-Sachs Disease, as the title might suggest.
The American College of Obstetricians and Gynecologists (ACOG) recommends that Ashkenazi Jews be screened for Tay-Sachs disease, Canavan disease, cystic fibrosis, and familial dysautonomia, and the American College of Medical Genetics and Genomics (ACMG) adds five more diseases.
Potent GCS inhibitors reduce glucosylceramide (GlcCer), the substrate of GBA and the storage material in Gaucher, and also higher glycosphingolipids including gangliosides and globosides, the causative storage materials in Tay-Sachs disease, GM1 gangliosidosis and Fabry disease.
Testing Fate: Tay-Sachs Disease and the Right to Be Responsible
Last year, Ryan and wife Sam's two-year-old son Rohan was diagnosed with Tay-Sachs disease - a genetic condition which causes progressive damage to the nervous system.
Some of the more common disorders for which such screening is done are cystic fibrosis, sickle cell disease, thalassemia, and Tay-Sachs disease.
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.