L-2-hydroxyglutaric aciduria (L-2-HGA)

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 recessiveread 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.

Price:

48.80 €

  • You can order free sampling kit.
  • Only one sample is required for each animal, even if you order several tests.
  • Samples are stored for the option to order additional tests.
  • We offer expert assistance in interpreting the results.
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