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Gangliosidosis (GM1) is a fatal neurodegenerative disease.
12 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Gangliosidosis (GM1) is a fatal neurodegenerative disease. The lysosomal enzyme β-D-galactosidase cleaves terminal galactose residues from a variety of molecules. Due to a mutation the enzyme cannot be produced properly anymore, which leads to an accumulation of GM1 gangliosides (a type of glycolipid) in various tissues.
The lack of the GM1 enzyme causes the lysosomal storage disease, which is characterised by progressive neuromuscular dysfunction and impaired growth starting at an early age.
Specific breeds are undefined.
Pubmed ID: 18353697
Omia ID: 402