Overview

Sandhoff disease


Show Summary Details

Quick Reference

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.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.