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  • tay-sachs disease Èæ³»À强 °¡Á·¼º ¹éÄ¡ÀÇ ¿µ¾ÆÇü.

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Tay-Sachs carrier <genetics> One who carries the recessive gene that is responsible for Tay-Sachs disease. Genetic testing for this fatal disease is crucial so that Tay-Sachs carriers can be identified and provided with genetic counseling.
(27 Sep 1997)
Tay-Sachs disease <disease> A genetic disorder found in east European Jewish families which can result in early death bu affecting the brain and nerves by causing abnormal lipid metabolism. It is a lysosomal disease in which there is a deficiency of hexosaminidase A, an enzyme that degrades ganglioside GM2.
Symptoms appear at age 3-6 months and include blindness, deafness, seizures, paralysis, dementia, decreased muscle tone and growth retardation. There is no known treatment and most children usually die between 2 and 5 years of age.
Inheritance: autosomal recessive.
(06 Oct 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Tay-Sachs Disease - »õâ An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
    Synonyms : Amaurotic Familial Idiocy, Deficiency Disease Hexosaminidase A, Familial Amaurotic Idiocy, GM2 Gangliosidosis, B Variant, GM2 Gangliosidosis, Type I, Gangliosidosis GM2, Type I, Amaurotic Idiocy, Familial, Idiocies, Familial Amaurotic, Tay Sachs Disease
  • Tay-Sachs Disease, AB Variant - »õâ A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
    Synonyms : AB Variant Gangliosidosis GM2, Deficiency Disease, GM2 Protein Activator, GM2 Activator Deficiency Disease, Hexosaminidase Activator Protein Deficiency Disease, Tay Sachs Disease, AB Variant
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Tay-Sachs disease a hereditary disorder of lipid metabolism occuring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
Ãâó: wordnet.princeton.edu/perl/webwn
Tay-Sachs disease (Tay-Sachs disease) (ta-saks) [Warren Tay; Bernard Parney Sachs, New York neurologist, 1858?944] see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
Tay-Sachs disease a severe genetic disorder that causes nervous system disturbances and death, usually before the age of 3
Ãâó: www.american-depot.com/services/resources_gl_t.asp
Tay-Sachs disease A hereditary disorder in which a deficiency of the enzyme hexosaminidase causes progressive mental retardation, paralysis, dementia and blindness, which usually results in death by age 5. Tay-Sachs is most common in families of Eastern European descent.
Ãâó: www.ehealthmd.com/library/amniocentesis/AMO_glossa...
Tay-Sachs disease a disease that can gradually destroy the brain and nerve cells and eventually prove fatal. A milder form can lead to muscular problems and mental illness.
Ãâó: https://www.healthforums.com/library/1,1277,articl...
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tay-sachs a hereditary disorder of lipid metabolism occuring most frequently in individuals of eastern European Jewish descent
tay-sachs a hereditary disorder of lipid metabolism occuring most frequently in individuals of eastern European Jewish descent
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