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What malfunction causes Tay-Sachs disease?

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2 days ago ... Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. read more

The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. A ganglioside is a form of sphingolipid, which makes Tay–Sachs disease a member of the sphingolipidoses. There is no known cure or treatment. read more

One disease that related to the malfunction of the lysosomes is the Tay-Sachs disease, what it is is basically the molecules that suppose to be broken down accumulate instead because of the deficiency in one of the lysosomal enzymes. read more

Subsequent research, however, has proven that a large variety of different HEXA mutations can cause the disease. Because Tay–Sachs was one of the first genetic disorders for which widespread genetic screening was possible, it is one of the first genetic disorders in which the prevalence of compound heterozygosity has been demonstrated. read more

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Tay sachs disease
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