L-2-Hydroxyglutaric Aciduria in Dogs

Category: Nervous System & Behavioral
Inheritance: Autosomal recessive
Breeds documented: 1
Published sources: 4

Overview

An inherited metabolic fault allows a substance called L-2-hydroxyglutaric acid to build up in the body. The disorder affects brain function and can cause tremors, muscle stiffness, seizures and poor coordination. Behavior may also change, including unusual staring or loss of previously learned training. The disease can progress, but its effect on daily life varies considerably between affected dogs.

Signs to watch for

Stiffness affecting the legs
Wobbly walking or exaggerated steps
Shaking of the head or body
Staring into space or appearing confused
Loss of previously learned training
Seizures

Signs often start during the first year, although onset in older dogs is also reported.

Emergency Call a vet now if your dog has a seizure.

Diagnosis and tests

A vet may investigate the signs with MRI, a scan that produces detailed brain pictures, and specialized urine testing. Specialized analysis measures L-2-hydroxyglutaric acid and distinguishes it from a similar substance. DNA testing can identify the known Staffordshire Bull Terrier variant and distinguish affected dogs from carriers.

Breeds with documented risk

1 breed

By breed size

1 Medium

Staffordshire Bull TerrierMedium · Terrier Group

Inheritance

Autosomal recessive
Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier
A dog is affected only if it inherits two copies of the gene variant, one from each parent. A dog with one copy is a carrier: usually healthy, but able to pass the variant on. When two carriers are bred, on average one puppy in four is affected. A DNA test can tell clear, carrier and at-risk dogs apart.
As stated by OMIA

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.