Tay-Sachs disease

Tay-Sachs disease (TSD) is a deathly genetic disorder, most commonly affecting children. Tay-Sachs results in the destruction of the nervous system. It is caused by the absence of an important enzyme called hexosaminidase-A (Hex-A).

Without this enzyme, a fatty lipid or a fatty substance called GM2 ganglioside accumulates in cells, especially in the brain of a person that is affected. This accumulation in the brain cells causes progressive damage to the brain and the entire body.

The destructive process of the Tay-Sachs disease begins early in pregnancy, and it can be discovered in a fetus. However, a child with Tay-Sachs appears normal until they’re about six months old when the child’s development slows down. By the time a child is two years old, they’ll probably experience recurrent seizures and their mental function will start to diminish. The child is eventually unable to turn over, crawl, sit, or walk, becomes blind and non-responsive.

The death usually results by the time the child is five years old because the nervous system is so affected that there’s nothing to do anymore.

  1. September 30, 2018

    A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

  2. October 13, 2018

    By experts opinion that Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A) as well. 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. Thanks and keep up the great work!

  3. October 14, 2018

    Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord.The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling.

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