Disease overview

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) causes a neurologic disorder characterized by seizures and abnormal behavior. SSADH is caused by a lack of enzyme which is necessary for the use of a major inhibitory neurotransmitter in the brain. The neurological systems cannot function correctly without this enzyme.

Gene name

ALDH5A1

Inheritance

Autosomal recessive

Signs and symptoms

Puppies with this disorder show abnormal neurological signs around 6 to 8 weeks of age. These include seizures, abnormal behavior, and difficultly waking.

How is it diagnosed

This disease is extremely rare. Diagnosis can be obtained through an MRI of the brain. Specific blood and urine laboratory tests are helpful in diagnosing this condition. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Vernau KM, Struys E, Letko A, Woolard KD, Aguilar M, Brown EA, Cissell DD, Dickinson PJ, Shelton GD, Broome MR, Gibson KM, Pearl PL, König F, Van Winkle TJ, O'Brien D, Roos B, Matiasek K, Jagannathan V, Drögemüller C, Mansour TA, Brown CT, Bannasch DL. A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes (Basel). 2020 Sep 2;11(9):1033. doi: 10.3390/genes11091033. PMID: 32887425; PMCID: PMC7565783.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.