- It is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
- Tay–Sachs disease is caused by a genetic mutation in the HEXA genes on chromosome 15.
- It is inherited from a person's parents in an autosomal recessive manner.
- The mutation results in problems with an enzyme called beta-hexosamidase A ,located on lysosomes,which results in the build up of the toxin GM2 ganglioside within cells.
- The most common type, known as infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl.This is then followed by seizures, hearing loss, and inability to move. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder.Death usually occurs in early childhood.
- Less commonly the disease may occur in later childhood or adulthood.These forms are generally milder in nature.
- Diagnosis is by measuring the blood hexosaminidase A level or genetic testing.
- The substance which accumulates in Tay Sach’s disease is Ganglioside.
- Deficiency of enzyme Hexosaminidase-A causes Tay Sach’s disease.
- Cherry red spot at macula may be seen in Tay Sach’s disease.
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