Tay-Sachs disease

/tay"saks"/, Pathol.
a rare fatal hereditary disease, occurring chiefly in infants and children, esp. of eastern European Jewish origin, characterized by a red spot on the retina, gradual blindness, and paralysis.
[1920-25; named after W. Tay (1843-1927), English physician, and B. Sachs (1858-1944), American neurologist]

* * *

Recessive hereditary metabolic disorder, mostly in Ashkenazi Jews, causing progressive mental and neurologic deterioration and death by age five.

A lipid, ganglioside GM2, 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.

* * *

▪ medical disorder
also called  Amaurotic Familial Idiocy,  

      hereditary metabolic disorder that causes progressive mental and neurologic deterioration and results in death in early childhood. The disease is inherited as an autosomal recessive trait and occurs most commonly among people of eastern European (Ashkenazic (Ashkenazi)) Jewish (Jew) origin.

      In infants born with the disease, abnormally low activity of the enzyme hexosaminidase A allows an unusual sphingolipid, ganglioside GM2, to accumulate in the brain, where it soon exerts devastating effects on neurological function. In some affected children, the enzyme is present but the sphingolipid accumulates nonetheless. Tay-Sachs infants appear normal at birth but become listless and inattentive during the first few months of life. As the disease progresses, the child loses motor abilities already gained, such as crawling and sitting, develops uncontrollable seizures, and is unable to lift its head or swallow. A cherry-red spot develops on the retina, and blindness and a general paralysis usually precede death. There is no treatment for the disease.

      About 1 in 2,500 Ashkenazic Jewish infants is afflicted with Tay-Sachs disease, as compared to 1 in 360,000 non-Jewish babies. The disease can be detected by prenatal tests. About 1 in 25 Ashkenazic Jews is a carrier of the Tay-Sachs gene. Adult genetic carriers can be identified by measuring the level of hexosaminidase A in their blood or other fluids.

* * *


Universalium. 2010.

Look at other dictionaries:

  • TAY-SACHS DISEASE — (Amaurotic Familial Idiocy). Amaurotic Familial Idiocy, known as the Tay Sachs Disease after W. Tay, an English ophthalmologist who discovered it in 1881, and B. Sachs, a U.S. neurologist who followed in 1887, is a hereditary disease,… …   Encyclopedia of Judaism

  • Tay-Sachs disease — tā saks n a hereditary disorder of lipid metabolism that typically affects individuals of eastern European Jewish ancestry, that is marked by the accumulation of lipids esp. in nervous tissue due to a deficiency of hexosaminidase A, that is… …   Medical dictionary

  • Tay-Sachs Disease — Tay Sachs Disease, n. (Med.) A rare hereditary disease affecting lipid metabolism in humans, due to a deficiency of hexosaminidase. It occurs in infants and children, and causes death before the onset of adulthood. It occurs most commonly of… …   The Collaborative International Dictionary of English

  • Tay-Sachs disease — Tay′ Sachs′ disease [[t]ˈteɪˈsæks[/t]] n. pat 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 • Etymology: 1905–10; after… …   From formal English to slang

  • Tay-Sachs disease — ☆ Tay Sachs disease [tā′saks′ ] n. [after W. Tay (1843 1927), Eng physician, & B. Sachs (1858 1944), U.S. neurologist, who described it] a hereditary condition, found chiefly among descendants of some Eastern European Jews, caused by an enzyme… …   English World dictionary

  • Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… …   Wikipedia

  • Tay-Sachs disease — noun 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 • Syn: ↑Tay Sachs, ↑Sachs disease,… …   Useful english dictionary

  • Tay-Sachs disease — noun Etymology: Warren Tay died 1927 British physician & Bernard P. Sachs died 1944 American neurologist Date: 1907 a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is… …   New Collegiate Dictionary

  • Tay-Sachs disease — amaurotic familial idiocy an inherited disorder of lipid metabolism (see lipidosis) in which abnormal accumulation of lipid in the brain leads to blindness, mental retardation, and death in infancy. The gene responsible for the disorder is… …   The new mediacal dictionary

  • Tay–Sachs disease — [teɪ saks] noun an inherited metabolic disorder in which certain lipids accumulate in the brain, causing spasticity and death in childhood. Origin early 20th cent.: from the names of the English ophthalmologist Warren Tay and the American… …   English new terms dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.