For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Accumulation of L-2-hydroxyglutaric acid levels in the body leads to damage to the central nervous system in affected dogs. Typically, the disease presents itself between six months and one year of age but can present as late as seven years of age. Neurological clinical signs include ataxia, muscle stiffness during exercise or excitement, altered behavior, or epileptic seizures.
While there is no cure, palliative treatment for the clinical signs associated with the disease can improve the dog's quality of life. Seizures do generally respond to standard anti-epileptic therapy, such as phenobarbital.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the L2HGA mutation can be safely bred with a clear dog with no copies of the L2HGA mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the L2HGA mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the L2HGA mutation could develop due to a different genetic or clinical cause.