SSADH deficiency / Saluki encephalopathy (ALDH5A1-related) - Dog

What does this test examine?

This genetic test examines the ALDH5A1 variant c.866G>A in the Saluki. The variant causes succinic semialdehyde dehydrogenase deficiency, abbreviated SSADHD. In Salukis, the condition is also referred to as Saluki encephalopathy or the genetic form previously connected with central nervous system status spongiosus.

What does SSADHD mean?

ALDH5A1 encodes succinic semialdehyde dehydrogenase, an enzyme in the GABA degradation pathway of the nervous system. Dogs with two copies of the tested variant lack or lose sufficient enzyme activity, causing metabolic products to accumulate and severely affect the central nervous system. Affected Saluki puppies can show neurological signs as early as six to ten weeks of age, including seizures, abnormal behaviour, vocalisation, difficulty waking and severe brain changes.

Practical value of this test

SSADHD is inherited in an autosomal recessive manner. Carriers usually appear healthy, but two carriers together can produce affected puppies. DNA testing gives Saluki breeders the ability to identify carriers early and plan matings so that this serious neurological disorder is not produced in a litter.

• Distinguishes clear dogs, carriers and genetically affected dogs.
• Helps avoid risk matings within Saluki lines.
• Supports transparent communication about carrier status in breeding animals.
• Provides clear genetic information in families where young puppies with neurological signs have been reported.

Result and inheritance

A dog with G/G does not carry the tested variant. A dog with G/A is a carrier and can pass the variant on. A dog with A/A has the genotype that causes SSADHD in the Saluki.