Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited genetic disease caused by inefficient metabolic breakdown of y-aminobutyric acid (GABA). The enzyme succinic semialdehyde dehydrogenase has important role in part of the metabolism of the neurotransmitter GABA. First clinical signs of affected puppies usually start at the age of 6-10 weeks. Neurological abnormalities may include seizures, change in behaviour, mild generalized ataxia, atrophy of the cerebellar cortex with vacuolization, lethargy, increased levels of gamma-hydroxybutyric acid and increased levels of succinic semialdehyde.

Inheritance: autosomal recessive

Mutation: ALDH5A1 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.