Tay-Sachs disease

Tay-Sachs disease
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 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
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.

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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 recessive, and the disease can now be largely prevented by genetic counselling in communities known to be affected.
W. Tay (1843-1927), British physician; B. Sachs (1858-1944), US neurologist

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(TSD) an autosomal recessive lysosomal storage disease, occurring particularly in Ashkenazi Jews; it is a GM2 gangliosidosis characterized by deficiency of hexosaminidase A, and caused by mutation in the HEXA gene, which encodes the α subunit of that enzyme. The classic infantile form is characterized by infantile onset (3–6 months), doll-like facies, cherry-red macular spot (90+ per cent of the infants), early blindness, hyperacusis, macrocephaly, seizures, and hypotonia; the children die between 2 and 5 years of age. There are also juvenile and adult forms, with increased age of onset correlated with decreased severity and greater heterogeneity. See also Sandhoff d.

Tay-Sachs disease, showing characteristic cherry-red macular spot.

Medical dictionary. 2011.

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 — /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… …   Universalium

  • 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

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