Tay Sachs also known as GM2 gangliosidosis is caused genetic disorder. Genes serve to direct specific development/processes within the body and are located on chromosomes. The genetic disorder in Tay Sachs disease results in the lack of an enzyme called hexosaminidase A. Gangliosides cannot be degraded without this enzyme, . Since these enzymes build up within the brain, they interfere with nerve functioning. Being recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the Tay Sachs disease. People with one normal gene and one defective gene are called carriers. Since they carry the defective gene there is a high probability of passing the gene and the disease onto their offspring.
Treatment for Tay-Sachs currently only includes methods for controlling symptoms, and focus on lifestyle and care issues. Since there is no way of slowing down the progression of the disease or cure, the treatment consists of providing proper medications, nutrition, and care. Most Tay Sachs patients don’t live past the age of 4 even with treatment.
Tay-Sachs and many other defects can be diagnosed before birth by amniocentesis and chorionic villus sampling (CVS).

TTags: cystic fibrosis, sickle cell anemia, sickle cell disease, tay sachs, tay sachs disease