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: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.