Tay sachs disease (TSD) is a rare autosomal recessive neuro-degenerative disorder that deals mutation in HEXA and HEXB genes which encode α and β subunit of human lysosomal β hexosaminidase. Classical TSD or type B GM2 ganglioside is a progressive and fetal neuro-degenerative disease, dealing the deposition or storage of GM2 ganglioside in the nerve cell. Mutation of these genes is causing loss of activities which further exhibiting symptoms of TSD. In the present review, advancement made in the field of diagnosis and treatment of TSD has been discussed with clinical features, case study, molecular epidemiology and enzymological characteristics of related genes.