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 people of Jewish origin from easter Europe. It is characterized by accumulation of lipids in nervous tissue, causes a red spot on the retina, and eventual blindness and paralysis before death.
an enzyme deficiency of lipid metabolism inherited as a recessive; causes death in early childhood.
inherited, progressive neuronal degeneration of the central nervous system due to a deficient lysosomal enzyme; it causes excessive accumulations of a lipid called ganglioside
a hereditary disease that effects children of Eastern European Jewish parents characterized by mental retardation, convulsions, blindness and, ultimately, death
a severe genetic disorder that causes nervous system disturbances and death, usually before the age of 3
Inherited, rare disorder of the central nervous system in infants and young children. It causes progressive impairment and early death. Less than 100 children are born with the disease each year in the U.S. See Sandhoff's disease.
A lethal genetic disease due to deficiency of hexosaminidase A. Characterized by developmental retardation, followed by paralysis, mental deterioration, and blindness. Most patients die by age 3.
An inherited brain disorder which results in early death.
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
a fatal hereditary disease which is characterized by the degeneration of the nervous system. It is caused by a defect in an enzyme.
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.
A lethal hereditary disease. The progressive accumulation of a substance called ganglioside in the brain causes paralysis, mental deterioration and blindness. Death usually occurs before the age of four.
is caused by a deficiency of the a cell chemical called hexoaminidase A. A harmful substance then builds up in the brain causing deterioration in both mental and physical abilities. Death typically occurs by 5 years of age. A less common form affects adults rather than children.
A fatal heredity disorder characterized by mental retardation and paralysis. This condition is most common in offspring from Jewish couples of eastern European descent.
A very severe, progressive disease of the brain that results in death in early childhood. It is an autosomal recessive disease so both parents must be carriers in order to have an affected child.
A recessive genetic disorder common among Ashkenazi Jews in which the enzyme needed to break down certain lipids is absent.
A genetic disorder carried by an estimated one in 30 Eastern European Jews; babies born with Tay-Sachs lack an essential enzyme and die in early childhood. A preconception test can determine whether potential parents are carriers of the disease.
Hereditary disorder resulting from a deficiency of the enzyme hexosaminidase. Symptoms include blindness, delayed development, seizures and paralysis. Tay-Sachs disease often results in an early death.
a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in the nerve cells in the brain and damage the cells. In children, this begins in the fetus early in pregnancy. By the time a child with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age five.
an inherited disease of infancy characterized by profound mental retardation and early death; it is caused by a recessive gene mutation.
fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside gm2 accumulate in the nerve cells of the brain. infants with tay-sachs disease appear to develop normally for the first few months of life. then as nerve cells become distended with fatty material, a continuous deterioration of mental and physical abilities occurs. babies with tay-sachs lack an enzyme (protein) called hexosaminidase a (hex a) necessary for breaking down certain fatty substances in brain and nerve cells. these substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working.
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.
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.
Progressive nervous system disorder characterized by deafness, blindness, and seizures. The disease is fatal, usually by the age of 4.
A genetic disorder found in eastern Europe Jewish families. Can result in early death by affecting brain and nerves. The disease can now be largely prevented by genetic counseling in families known to be at risk.
Genetic disorder with progressive neurological deterioration and death in early childhood, affecting primarily Ashkenazi Jewish families.
An inherited disease characterized by mental retardation, blindness, convulsions, decreased muscle tone, and, eventually, death; found most often in Ashkenazi Jews and French Canadians.
Tay-Sachs disease (abbreviated TSD, also known as "GM2 gangliosidosis") is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD is inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain.