Sandhoff results from a genetic mutation that reduces the body's supply of an enzyme, called hexosaminidase ("hex"), used by brain cells to metabolize excess fatty material called lipids.

由基因突变导致的山德霍夫氏病会减少体内的一种叫做己糖胺酶的供应，而脑细胞用它来代谢过多的脂质。