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Breeds: American Staffordshire Terrier, Mixed Breed, Pit Bull Terrier, Shorty Bull, Staffordshire Bull Terrier, Unspecified
Hydroxyglutaric Aciduria or L-2-HGA is an autosomal recessive disorder that affects the central nervous system of the dog. Autosomal recessive disorders are disorders that can be passed from either parent and require two copies of the gene to show symptoms. Clinical signs of L-2-HGA usually appear between 6 months and one year (although they can appear later). Symptoms of the disease include some or all of the following:
- epileptic seizures
- "wobbly" gait
- muscle stiffness as a result of exercise or excitement.
Because L-2-HGA is a recessive disorder, a dog must have two copies of the mutation in order for the disease to manifest. This means that a dog can have one copy of the mutation and not experience any signs or symptoms of L-2-HGA. This dog would be known as a carrier. The carrier can then pass on either the normal gene or the mutated gene to any offspring. If two carriers are bred, there is a 25% per puppy that they will develop symptoms of L-2-HGA.
|Affected: Dog has two copies of the HGA mutation and will be affected. The gene will be passed on to every offspring
|Carrier: Dog has one copy of the HGA mutation. The dog is not affected by HGA but may pass the mutation to offspring.
|Clear: Dog is negative for the mutation associated with HGA.
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. Farias FH, Zeng R, Johnson GS, Shelton GD, Paquette D, O'Brien DP. BMC Vet Res. 2012 Jul 26;8:124. doi: 10.1186/1746-6148-8-124. [PMID: 22834903]