Tay-sachs

Tay-sachs Disease
Related Category: Pathology
(t´-sks´), rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, ...
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Tay-Sachs disease
Definition:
Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death. It is found predominantly in Ashkenazi Jewish families.
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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.
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Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms.
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Tay-Sachs disease is an autosomal recessive inherited disorder, meaning a child inherits one copy of the abnormal gene from each parent. The parents do not actually have the disease, but carry the Tay-Sachs gene and pass it on to the baby.
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tay-sachs disease
Causes and symptoms
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
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- Tay-Sachs disease
Dominant disorders
- Huntington's disease (a progressive neurological disease that develops in adulthood) ...
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Common examples of inherited genetic disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. In most cases, these diseases can affect your baby only if both you and your partner carry genes for the disease.
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Detect inherited genetic disorders of your baby during pregnancy (such as Tay-Sachs disease, hemophilia, sickle cell disease, cystic fibrosis, or thalassemia), especially if either you or the father has a family history of an inherited disorder.
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maternal and paternal family medical history - including illnesses such as diabetes or mental retardation, and genetic disorders such as sickle-cell disease or Tay-Sachs disease.
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Someone in your family has had Tay-Sachs disease. This is a brain problem that can cause early death. It is most common in Jews who have an Eastern European Ashkenazic ancestry.
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