L-2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type)

General Information: L-2-Hydroxyglutaric Aciduria (L-2-HGA) in Yorkshire Terriers is a severe neurometabolic condition caused by a defect in the metabolism of L-2-hydroxyglutaric acid, leading to its accumulation in the urine, blood, and cerebrospinal fluid. Typically presenting symptoms between four months and one year of age, affected dogs exhibit a variety of neurological signs including an unsteady, wobbly gait, muscle stiffness, especially after exercise or excitement, behavioral changes, tremors, and seizures. The onset and severity of symptoms can vary, with some dogs remaining asymptomatic until later in life. The progression of symptoms often leads to significant deterioration in the quality of life, requiring careful management.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for L-2-Hydroxyglutaric Aciduria (L-2-HGA) in Yorkshire Terriers specifically analyzes the L2HGDH gene to identify carriers of this autosomal recessive disorder. Dogs must inherit two copies of the mutated gene, one from each parent, to manifest the disease, whereas carriers do not show symptoms but can pass the mutation to their offspring. Breeding decisions should be informed by reliable genetic testing to prevent the breeding of carriers together, as each offspring from such a pair has a 25% chance of being affected and a 50% chance of being a carrier. To safeguard the breed's health and prevent the incidence of this debilitating condition, it is recommended not to breed carriers together. Non-carriers will not pass the mutation to their offspring, ensuring no risk of perpetuating the disorder.