A lysosomal storage disease (q.v.) with symptoms similar to the Tay-Sachs disease (q.v.). K. Sandhoff and three colleagues published the first description of the condition in 1968. The Sandhoff and Tay-Sachs diseases are due to mutations involving the same enzyme, hexosaminidase (q.v.). The catalytic form of the enzyme is a heterodimer, and each gene encodes a different monomer.
Subjects: Genetics and Genomics — Medicine and Health.