Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses

Curr Protoc Hum Genet. 2014 Oct 1:83:17.16.1-8. doi: 10.1002/0471142905.hg1716s83.


The GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by defective β-hexosaminidase. There are three clinical conditions in this group: Tay-Sachs disease (TSD), Sandhoff disease (SD), and hexosaminidase activator deficiency. The three conditions are clinically indistinguishable. TSD and SD have been identified with infantile, juvenile, and adult onset forms. The activator deficiency is only known to present with infantile onset. Diagnosis of TSD and SD is based on decreased hexosaminidase activity and a change in the percentage of activity between isoforms. There are no biochemical tests currently available for activator deficiency. This unit provides a detailed procedure for identifying TSD and SD in affected individuals and carriers from leukocyte samples, the most robust sample type available.

Keywords: GM2 gangliosidosis; Sandhoff disease; Tay-Sachs disease; hexosaminidase.

MeSH terms

  • Gangliosidoses, GM2 / diagnosis*
  • Humans