L-2-hydroxyglutaric aciduria / L2-HGA (L2HGDH-related) - Dog

What does this test analyse?

This genetic test analyses the L2HGDH c.1298_1300delinsCTT variant for L-2-hydroxyglutaric aciduria in dogs. The condition is also known as L-2-HGA, L2HGA and Staffy Cramp. L2HGDH encodes L-2-hydroxyglutarate dehydrogenase, an enzyme involved in breaking down L-2-hydroxyglutaric acid. Dogs with two copies of the tested variant can accumulate this metabolite in plasma, urine and cerebrospinal fluid, mainly affecting the nervous system.

What does this condition mean?

L2-HGA is an inherited neurometabolic disorder. Affected dogs may develop an unsteady gait, muscle cramps or stiffness after exercise or excitement, seizures, ataxia and behavioural changes. Signs are often seen at a young age, although later presentation can occur. Severity varies, so a clear genetic result is valuable for breeding and follow-up.

Inheritance and result

The condition is inherited as an autosomal recessive trait. A dog with two normal alleles is clear for the tested variant. A heterozygous dog is a carrier and can pass the variant on. A dog with two copies of the variant develops the genetic form of L2-HGA.

Practical value of this test

• Helps breeders identify carriers early and avoid carrier-to-carrier matings.
• Supports selection of breeding animals and planning within risk lines.
• Gives owners and veterinarians clear genetic context when neurological signs or family risk are relevant.
• Allows puppies or breeding dogs to be documented objectively before use or sale.

When to use this test

This test is especially useful when a dog comes from a risk line, when breeding animals need genetic documentation, or when neurological signs are known within a family. Because carriers can look completely healthy, DNA testing is the most direct way to distinguish hidden carriers from clear dogs. The result makes breeding advice more concrete: clear dogs do not pass on this specific variant, carriers require careful mate selection, and affected genotypes deserve additional attention in health follow-up.