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Description

L-2-hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disorder characterised by accumulation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. In healthy dogs L-2-hydroxyglutarate is metabolized to the 2-oxoglutarate (alpha-ketoglutarate), but in affected dogs L-2-HGA cannot be metabolised and is accumulated in their bodies. This leads to central nervous system damage that produces a variety of clinical neurological deficits, including psychomotor retardation, cerebellar ataxia, muscle stiffness, dementia and seizures (like epilepsy). Clinical signs in most cases become apparent between 6 months and one year.

 

Inheritance: autosomal recessive - read more

Mutation: L2HGDH 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: Staffordshire Bull Terrier

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

 

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