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Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) - Saluki Type
| Acronym: | SSADHD |
| Gene: | ALDH5A1 |
| Mutation: | c.866G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited inborn error of metabolism (IEM), a genetic disease caused by an enzymatic deficiency in a metabolic pathway. The most affected dog breed is Saluki where the deficiency may lead to a seizure disorder called central nervous system status spongiosus (SSSD). The affected dogs often show increased level of GABA in serum and succinate semialdehyde in urine, cerebrospinal fluid and brain. Other important symptoms include seizures, altered behavior and other neurological abnormalities. SSADHD is caused by a missense variant within the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene. That gene encodes a succinic semialdehyde dehydrogenase (SSADH), an enzyme critical in the GABA neurotransmitter metabolic pathway.
This type of IEM disease is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Saluki dogs with only one copy of the gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent the development of a seizure disorder and other neurological disorders by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Vernau, K. M., Struys, E., Letko, A., Woolard, K. D., Aguilar, M., Brown, E. A., Cissell, D. D., Dickinson, P. J., Shelton, G. D., Broome, M. R., Gibson, K. M., Pearl, P. L., König, F., Van Winkle, T. J., O Brien, D., Roos, B., Matiasek, K., Jagannathan, V., Drögemüller, C., Mansour, T. A., Bannasch, D. L. (2020). A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes, 11(9), 1033. https://doi.org/10.3390/genes11091033