Hydroxyglutaric Aciduria or L-2-HGA is a recessive disorder that is a Neurometabolic disorder characterised by elevated level of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Clinical signs usually appear between 6 months and one year (although they can appear at birth or later in life), they may appear suddenly or gradually. Symptoms of the disease include some or all of the following, epileptic seizures, “wobbly” gait, dissorination, dementia, behavioural changes, loss of obedience training, tremors, muscle stiffness as a result of exercise or excitement.

Some dogs affected by the disease may live into their teens, but some severely affected by the disease will be humanely euthanized at a young age.

The disorder presents itself in an autosomal recessive mode of inheritance. This means that two copies of the defective gene (one coming from each parent) have to be present for a dog to be affected by the disease. Dogs with only a single copy of the defective gene and one normal copy of the gene are called carriers. Carriers are not symptomatic and will not develop the disease however, can pass the defective gene onto their offspring. When two carriers are mated, on average 25% of the offspring will be affected by the disease, 50% will be carriers and 25% will be clear. There is no cure or treatment for this disorder. DNA testing is readily available for this disease.