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Gangliosidosis (GM1) is a fatal neurodegenerative disease.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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.

Clinical features

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.

Additional information

Specific breeds are undefined.

References

Pubmed ID: 18353697

Omia ID: 402

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