Tay-Sachs disease, which is inherited in an autosomal recessive manner, is a fatal disease. It is characterized by the absence or deficiency of the enzyme hexosaminidase A. This biochemical defect results in an abnormal deposition of gangliosidase in the central nervous system and the liver. Statistically, it is common in Ashkenazic Jews, and the carrier state for the disease may be 1 in every 30 Jewish people. It has also been reported in children of French-Canadian ancestry. It is possible to assay the levels of the enzyme in amniotic fluid; and, as such, it is commonly tested for when amniocentesis is performed.
Unable to display preview. Download preview PDF.