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Tay-Sachs disease is a rare disorder that causes neurons to break down, especially those in the brain and spinal cord. The condition is classified as a lysosomal storage disorder because it involves a problem with lysosomal enzymes needed for proper cell functionality. Some experts also refer to Tay-Sachs disease as GM2 gangliosidosis because it involves a harmful build-up of gangliosides. The gene mutations that cause the condition are severe.

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1. What is Tay-Sachs Disease?

Lysosomal enzymes are responsible for breaking down nutrients in cells, including fatty acids or gangliosides. In a person with Tay-Sachs disease, these lysosomal enzymes are missing or defective. A mutation within the HEXA gene causes this defect. The result is a build-up of fatty acids within the cells which becomes toxic, eventually destroying the cells and causing the symptoms associated with the condition. Tay-Sachs is an inherited disease, and the gene mutation must be present in both parents to occur in their offspring.

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