Tay-Sach's Disease

Tay Sach's disease is characterized by a progressive nervous degenrations.Infants that, at first, appear normal show developmental retardation, followed by paralysis, dementia and blindness, with death resulting by 2 or 3 years of age.

Tay Sachs disease is caused by a complete dificiency for the lysosomal enzyme beta-N-hexosaminidase A which is involved in the "turnover" of ganglioside GM2. Individuals that lack the lysosomal enzyme beta-N-hexosaminidase A cannot properly degrade GM2 and it accumlates in the cells resulting in nervous degeneration.

A partial loss of beta-N-hexosaminidase can apparently also lead to metal degeneration at later stages in life.