Tay- Sachs Disease(TSD)
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2020-02-17
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faculty of Basic Medical Science - Libyan International Medical University
Abstract
Tay-Sachs disease is an autosomal recessive disease characterized by progressive
neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population
the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1
in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced
disease incidence by 90% in high-risk populations in several countries. The Brazilian
Jewish population is estimated at 90,000 individuals. Currently, there is no screening
program for Tay-Sachs disease in this population. To evaluate the importance of a TaySachs disease carrier screening program in the Brazilian Jewish population by
determining the frequency of heterozygotes and the acceptance of the program by the
community
Description
Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in
children, that results in progressive destruction of the nervous system. This condition
is inherited in an autosomal recessive which means both copies of the gene in each cell
have mutations. The parents of an individual with an autosomal recessive condition
each carry one copy of the mutated gene, but they typically do not show signs and
symptoms of the condition. Tay-Sachs is caused by the absence of a vital enzyme called
hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2
ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain.
This ongoing accumulation causes progressive damage to the cells . In children, the
destructive process begins in the fetus early in pregnancy
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