L-2-Hydroxyglutaric Aciduria (L-2-HGA)

49.90 € inc. Vat

Acronyms: L-2-HGA, L2HGA, HGA
Gene: L2HGDH
Mutation: Complex rearrangement
Mode of inheritance: Autosomal recessive
Breeds: Staffordshire Bull Terrier

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Product Description

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

L-2-hydroxyglutaric aciduria (L-2-HGA) represents a metabolic disorders that cause progressive damage to the brain. It belongs in a group of such disorders called 2-hydroxyglutaric aciduria. These disorders can be classified into two groups, D-2-HGA and L-2-HGA. L-2-hydroxyglutaric aciduria is an autosomal recessive encephalopathy including neurological traits such as psychomotor impairment, seizures and ataxia. The onset of the disease occurs predominantly in dogs less than one year old, although it has been identified in older dogs. The clinical presentation often resembles epilepsy, including seizures, ataxia and muscle tremors. Affected dogs are commonly prescribed the anti-epileptic drug phenobarbitone. In view of this approach, there is debate as to whether Staffordshire bull terriers suffer from epilepsy or whether Staffordshire bull terriers exhibiting these clinical signs are in fact suffering from L-2-HGA, and many dogs are now screened for recognized mutations before breeding to reduce the incidence of the condition in the breed. To date, there are no reports of any effects associated with heterozygosity.


Short, A.D., Mellersh, C.S., Platt, H., Carter, S.D., Timofte, D., Lohi, H., and Ollier, W.E.R. (2010). Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet. Rec. 167, 455–457.