3. TSD Tay-Sachs Disease (TSD) BY GREG DEYOUNG

4. Introduction to Tay-Sachs Disease There are many genetic diseases in the world, some worse than others. Probably one of the worst genetic diseases is Tay- Sachs Disease, or TSD. TSD is a disorder in which the bearer does not produce a vital enzyme. Without this enzyme, the lipid that the enzyme would usually break down builds up in the brain and eventually kills the host.

5. TSD in Finer Detail The enzyme missing in TSD patients is Hexosaminidase A (Hex A). The enzyme missing in TSD patients is Hexosaminidase A (Hex A). Lack of Hex A causes buildup of the lipid GM2 Ganglioside in the brain. Lack of Hex A causes buildup of the lipid GM2 Ganglioside in the brain. It is named for Warren Tay, an ophthalmologist, and Bernard Sachs, a neurologist. It is named for Warren Tay, an ophthalmologist, and Bernard Sachs, a neurologist.

6. The Lifecycle of a TSD Patient First, the child is born with Tay-Sachs. First, the child is born with Tay-Sachs. The child appears to be fine and seems to develop normally until about 4 to 6 months after birth. The child appears to be fine and seems to develop normally until about 4 to 6 months after birth. By then, large amounts of GM2 Ganglioside have built up in the brain cells. By then, large amounts of GM2 Ganglioside have built up in the brain cells. Soon after, the brain cells get damaged and the child becomes mentally retarded. Soon after, the brain cells get damaged and the child becomes mentally retarded. Finally, the child’s brain loses all control over the body and he or she dies within about 3 years. Finally, the child’s brain loses all control over the body and he or she dies within about 3 years.

7. TSD Treatment for TSD Currently, Tay-Sachs Disease has no cure or effective treatments. Currently, Tay-Sachs Disease has no cure or effective treatments. Even with the best medical care, children with TSD usually die by age 5. Even with the best medical care, children with TSD usually die by age 5.

8. Passing TSD On Both parents have to be carriers to pass on this disorder to their children. Both parents have to be carriers to pass on this disorder to their children. Even then, there is only a 25% chance that one of their children-to-be will have TSD. Even then, there is only a 25% chance that one of their children-to-be will have TSD.

9. Physical Characteristics This picture shows the “cherry-red” spot on the back of the retina on someone who has Tay-Sachs. This picture shows the “cherry-red” spot on the back of the retina on someone who has Tay-Sachs.

10. Some More Physical Characteristics A child with Tay-Sachs looks like he or she is just a normal, happy baby for about the first 5 months of development. A child with Tay-Sachs looks like he or she is just a normal, happy baby for about the first 5 months of development. Once brain damage begins, the child may stop smiling, crawling, and turning over. Once brain damage begins, the child may stop smiling, crawling, and turning over.

11. A Look Inside This is a picture of a Tay-Sachs patient’s brain stem. The little gray-white blobs are patches of GM2 Ganglioside. This is a picture of a Tay-Sachs patient’s brain stem. The little gray-white blobs are patches of GM2 Ganglioside.

12. Another Look Inside Here is another look at a patient’s brain stem. This time the lipids are stained blue and purple. Here is another look at a patient’s brain stem. This time the lipids are stained blue and purple.

13. A Brief Overview People with Tay-Sachs Disease do not produce the vital enzyme Hexosaminidase A, or Hex A. People with Tay-Sachs Disease do not produce the vital enzyme Hexosaminidase A, or Hex A. This causes the buildup of the lipid GM2 Ganglioside in the brain. This causes the buildup of the lipid GM2 Ganglioside in the brain. The buildup of the lipid causes damage to the brain cells which eventually kills the bearer of the disease. The buildup of the lipid causes damage to the brain cells which eventually kills the bearer of the disease.

14. References National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ National Tay-Sachs and Allied Diseases Association, Inc. National Tay-Sachs and Allied Diseases Association, Inc. http://www.ntsad.org/ Google Image Search Google Image Search http://www.google.com/images March of Dimes Medical References March of Dimes Medical References http://www.marchofdimes.com/