Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency ) is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually result...
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http://en.wikipedia.org/wiki/Tay–Sachs_disease
hereditary metabolic disorder that causes progressive mental and neurologic deterioration and results in death in early childhood. The disease is ... [3 related articles]
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This genetic disorder, where an individual lacks an essential enzyme which is needed to break down lipids, can result in severe abnormalities. It is common among Jews of Eastern European origin. A preconception test is often advised for high-risk parents to find out if they carry this recessive gene.
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<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 bli...
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(ta´ saks´) the infantile form of neuronal ceroid-lipofuscinosis, inherited as an autosomal recessive trait and affecting chiefly Ashkenazic Jews. It is a progressive disorder marked by degeneration of brain tissue and the maculas (with formation of a cherry-red spot on both retinas) and by dementia, blindness, and usua...
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A genetic disorder
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A fatal degenerative disease of the nervous system due to a deficiency of hexosamidase a, causing me
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Lysosomal disease (lipidosis) in which hexosaminidase A, an enzyme that degrades ganglioside GM2, is absent. A lethal autosomal recessive; mostly affects brain, where ganglion cells become swollen and die.
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A disease of childhood in which there is a progressive degeneration of nerve cells throughout the whole nervous system and in the retina.
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Type: Term Pronunciation: tā saks Definitions: 1. a lysosomal storage disease, resulting from hexosaminidase A deficiency. The monosialoganglioside is stored in central and peripheral neuronal cells. Infants present with hyperacusis and irritability, hypotonia, and failure to develop motor skills. Blindness with macular cherry red spots and se...
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http://www.medilexicon.com/medicaldictionary.php?t=25846
Tay-Sachs disease: A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. Abbreviated TSD. The classic form of TSD begins in infancy. The child usually develops normally for the first few months, but...
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A rare inherited birth disorder that is not generally seen at birth or in the first few months of life. Excessive amounts of fat will build up on the tissue and nerves in the brain, which will damage and kill the nerve cells. Because the nerve cells become damaged, the child will regress and mental and physical complications begin. The child will ....
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Tay-Sachs disease is 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.
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[
n] - a hereditary disorder of lipid metabolism occuring most frequently in individuals of eastern European Jewish descent
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a severe genetic disorder that causes nervous system disturbances and death, usually before the age of 3
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Tay-Sachs noun 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
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Inherited disorder, due to a defective gene, causing an enzyme deficiency that leads to blindness, retardation, and death in infancy. It is most common in people of Eastern European Jewish descent
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Inherited disease characterized by mental and physical retardation, convulsions, enlargement of the head and eventual death. Trait is usually carried by Ashkenazi Jews.
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Inherited disease characterized by mental and physical retardation, convulsions, enlargement of the head and eventual death. Trait is usually carried by Ashkenazi Jews.
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an inherited autosomal recessive condition that causes a progressive degeneration of the central nervous system which is fatal (usually by age 5).
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https://www.stanfordchildrens.org/en/topic/default?id=glossary-medical-gene
A genetic disorder (most commonly seen in Ashkenazi Jews) in which the baby lacks an essential enzyme and dies in early childhood. A preconception test can determine whether potential parents are carriers of the disease.
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