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L-2-Hydroxyglutaric Aciduria (L-2-HGA)
| Acronym: | L-2-HGA, L2HGA, HGA |
| Gene: | L2HGDH |
| Mutation: | c.1298_1300delinsCTT |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
L-2-hydroxyglutaric aciduria (L-2-HGA) represents metabolic disorders that cause progressive damage to the brain. It belongs to 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 have commonly been 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.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
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.