Liver and intrahepatic bile ducts - nontumor
Metabolic diseases
GM2 gangliosidosis

Topic Completed: 1 April 2012

Revised: 19 February 2020

Copyright: 2002-2020,, Inc.

PubMed Search: GM2 gangliosidosis[TIAB] liver

Komal Arora, M.D.
Page views in 2019: 401
Page views in 2020 to date: 100
Cite this page: Arora K. GM2 gangliosidosis. website. Accessed March 28th, 2020.
Definition / general
  • Autosomal recessive, neurodegenerative, lysosomal storage disease, due to inherited deficiency of lysosomal β-hexosaminidase (HexA), from mutations in the HEXA (Tay-Sachs variant) or the HEXB (Sandhoff variant) genes
  • Enzyme deficiency in many patients with juvenile or adult onset forms is due to production of unstable protein, which may be partially rescued following the growth of patient cells in the presence of pyrimethamine (Mol Genet Metab 2011;102:6)
  • Juvenile GM2 gangliosidosis is clinically heterogeneous (Pediatrics 2006;118:e1550)
Microscopic (histologic) description
  • Normal
Electron microscopy description
  • "Zebra bodies" - membrane bound laminated inclusions
Electron microscopy images

Images hosted on other servers:

Mucopolysaccharidosis (such as Hurler disease): membranous gangliosides (zebra bodies) in neuronal lysosomes

Niemann-Pick disease

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