Absence of hexosaminidase A is the cause of Tay-Sachs disease and similar variants, while total hexosaminidase deficiency (hexosaminidase A and hexosaminidase B) occurs in Sandhoff disease. Two subunits, a and b, coded by genes HEXA and HEXB, comprise the hexosaminidases. Hex A is α and hex B is β. New fluorogenic substrates are emerging to measure levels of hexosamindase/galactosaminidase activity in cell preparations and in vitro.
Useful fluorescent substrate for galactosaminidase or hexosaminidase activity measurements in Tay-Sachs and Sandhoff diseases. The red fluorescent product, resorufin, exhibits emission at 585 nm when excited at 570nm. Learn More