PATHOLOGY

Detailed explanation-1: -Tay Sachs disease is a progressive neurodegenerative disease. There is progressive neurological deterioration, and the seizures often remain refractory to treatment. Even with the best care, patients with infantile Tay Sach’s disease usually die by age of 4 to 5 years. Death usually results from recurrent infections.

Detailed explanation-2: -Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system. The symptoms of Leigh syndrome usually begin between the ages of three months and two years, but some patients do not exhibit signs and symptoms until several years later.

Detailed explanation-3: -It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells. Both parents must carry the mutated gene in order to have a child with Tay-Sachs disease.

Detailed explanation-4: -Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal. It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.

Detailed explanation-5: -Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme -hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell.