Introduction to Tay-Sachs

Tay-Sachs disease is a progressive neurological genetic disorder that can appear in three forms – these being Classic Infantile, Juvenile and Late Onset or Chronic Tay-Sachs.

Tay-Sachs is caused by the absence or insufficient levels of a vital enzyme called Hexosaminidase A (Hex-A) which results in a fatty substance or lipid called GM2 ganglioside accumulating abnormally in cells – especially in the nerve cells of the brain. As a progressive disease, a child with Classic Infantile Tay-Sachs will unfortunately lose their battle against Tay-Sachs in early childhood.

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What is Tay-Sachs?

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