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Tay–Sachs disease is a type of GM2 gangliosidosis and sphingolipidosis. [5] The treatment of Tay–Sachs disease is supportive in nature. [2] This may involve multiple specialities as well as psychosocial support for the family. [2] The disease is rare in the general population. [1]
The disease results from mutations on chromosome 5 in the HEXB gene, critical for the lysosomal enzymes beta-N-acetylhexosaminidase A and B. Sandhoff disease is clinically indistinguishable from Tay–Sachs disease. The most common form, infantile Sandhoff disease, is usually fatal by early childhood. [5]
Tay–Sachs disease.The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain.Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay–Sachs disease, is especially common in the nervous tissue of the brain.
The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive.
For preventing Tay–Sachs disease, three main approaches have been used to prevent or reduce the incidence of Tay–Sachs disease in those who are at high risk: Prenatal diagnosis. If both parents are identified as carriers, prenatal genetic testing can determine whether the fetus has inherited a defective copy of the gene from both parents.
Tay–Sachs disease occurs when hexosaminidase A loses its ability to function. People with Tay–Sachs disease are unable to remove the GalNAc residue from the G M2 ganglioside, and as a result, they end up storing 100 to 1000 times more G M2 gangliosides in the brain than the normal person. Over 100 different mutations have been discovered ...
Although no cure for Tay–Sachs disease has been found, antenatal genetic screening has virtually eliminated the disease in the Ashkenazi Jewish population in both the United States and Israel. In 1979, Kaback served on the first National Institutes of Health (NIH) panel to recommend antenatal diagnosis in cases where a couple might be at risk ...
Tay–Sachs disease occurs when hexosaminidase A loses its ability to function. People with Tay–Sachs disease are unable to remove the GalNAc residue from the G M2 ganglioside, and as a result, they end up storing 100 to 1000 times more G M2 gangliosides in the brain than the unaffected person. Over 100 different mutations have been ...