L-2-Hydroxyglutaricaciduria, L2HGA
A rare metabolic disorder, L2HGDH encodes the enzyme L-2-hydroxyglutarate dehydrogenase, which breaks down L-2-hydroxyglutarate. Buildup of L-2-hydroxyglutarate is known to induce oxidative stress, though the exact mechanism by which it causes the neurologic symptoms of L2HGA is unknown.
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Signs and symptoms
Affected dogs can experience seizures, behavior changes, or both. Behavior changes can range from loss of trained behavior to hyperactivity to increased aggression, while seizures can vary in severity and duration.
Affected Staffordshire Bull Terriers present as early as 4 months and as old as 6 years with progressive neurologic symptoms.Uncover health risks with Embark
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Diagnosis
Definitive diagnosis of L2HGA involves testing blood, urine, cerebrospinal fluid, and/or other fluids and tissues for elevated levels of L-2-hydroxyglutaric acid.
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Treatment
Currently there is no definitive treatment for L2HGA; rather, the condition is managed with anti-seizure and anti-anxiety medications.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s L2HGA result so you can plan ongoing care and discuss any medication that may help manage symptoms.
- Watch for changes such as unsteady movement, tremors, seizures, or behavioral differences, and contact your vet if you notice any of these.
- If your dog shows confusion, disorientation, or aggression, supervise interactions carefully and ensure your dog is in a calm, secure environment.
- Keep your dog’s routine predictable and their surroundings quiet to help reduce stress and make them feel more comfortable at home.
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Genetic Information
L2HGA was first identified in Staffordshire Bull Terriers and so is also known as "Staffy Cramp."
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
L2HGDH ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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