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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]
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 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]
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.
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
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.
In 2011, researchers discovered that pyrimethamine can increase β-hexosaminidase activity, thus potentially slowing down the progression of late-onset Tay–Sachs disease. [52] It is being evaluated in clinical trials as a treatment for amyotrophic lateral sclerosis. [53]
For example, the fatal Tay–Sachs disease arises as a genetic defect which leads to no functional hexosaminidase A produced, causing GM2 to accumulate in lysosomes. Ultimately the ganglion cells in the nervous system swell enormously, disturbing the normal functions of neurons. [5]