Here I present:“Tay-Sachs Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Hexosaminidase A deficiency is the cause of Tay-Sachs Disease. Enzyme commission number is EC # 3.2.1.52 for Hexosaminidase A.
Tay-Sachs Disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs Disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl.
The Hexosaminidase A (HEXA) gene is on cytogenetic location 15q23 and genomic coordinates 15:72,340,924-72,376,014 . The screenshot of the 35,091 bp (base pairs) of DNA length is shown BELOW of the HEXA gene.
