Abstract
Tay-Sachs disease (TSD) is a group of autosomal recessive lipid lysosomal storage disorders caused by mutations of the HEXA gene, which codes for the alpha subunit of the enzyme Hexosaminidase A, one of three enzymes responsible for the normal degradation of GM2 ganglioside, a substance found in high concentration in the plasma membrane of neuronal cells. The classic acute infantile form, discussed here, is a neurodegenerative disorder with onset at four to eight months of age in which acquired capabilities are lost and general neurologic deterioration occurs, with death by age two to four years. It occurs with highest frequency in the ...
