Liver and intrahepatic bile ducts-nontumor
Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 27 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.
● 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)
Electron microscopy description
● “Zebra bodies” - membrane-bound laminated inclusions
Electron microscopy images of zebra bodies from other disorders
Mucopolysaccharidosis (such as Hurler disease): membranous gangliosides (zebra bodies) in neuronal lysosomes
End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > GM2 gangliosidosis
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