EVG, molekularna diagnostika
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Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.

GM1- gangliosidosis in Siberian Husky affects brain, causing progressive neurological impairment. Affected dogs suffer from paralysis of the extremities and spasticity of the muscles. At the age of about 8 months, most dogs die of this disease.

Portuguese Water Dogs affected with GM1- gangliosidosis develop nervous system manifestations including ataxia, seizures and changes in temperament. They rarely survive beyond 6 months of age.

Shiba Inu dogs affected with GM1- gangliosidosis develop nervous system manifestations including vision loss, walking difficulties, loss of balance, head tremors, lethargy and weight loss. First symptoms appear around 5 to 6 months of age, by 9 to 12 months of age affected dogs are lethargic, have cloudy corneas, and may have involuntary muscle contractions. Dogs usually die by 15 months of age.


Inheritance: autosomal recessive - read more

Mutation: GLB1 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Portugese Waterdog, Siberian Husky, Shiba inu

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.


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