/ 0

Store

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) affects dogs and is a neurometabolic disease. The succinic semialdehyde dehydrogenase enzyme is crucial for the metabolism of the gamma-aminobutric acid (GABA) neurotransmitter. A mutation in the ALDH5A1 gene leads to a deficiency in the succinic semialdehyde dehydrogenase enzyme, ultimately affecting the break down of gamma-aminobutric acid. Puppies who are affected with this disorder will usually have first signs at around 6-10 weeks of age, and will show increased concentrations of gamma-aminobutric acid in their blood, brain and cerebrospinal fluid, and atrophy of cerebral cortex with vacuolisation. Symptoms of this disease can include neurologic abnormalities like change in behaviour and seizures. Due to the severity of their symptoms, affected puppies are usually ethanised around 3-9 months of age.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

ALDH5A1

Variant Detected:

c.866G>A missense mutation

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SSADHD gene will reliably determine if a dog is a genetic carrier of Succinic Semialdehyde Dehydrogenase Deficiency.

Research Citation(s):

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., Brown, C.T., Bannasch, D.L. : A missense variant in ALDH5A1 associated with canine succinic semialdehyde dehydrogenase deficiency (SSADHD) in the Saluki dog. Genes (Basel) 11:1033, 2020. Pubmed reference: 32887425

Associated Breed(s):

Mixed Breed, Saluki,

##parent-placeholder-8bfb4e1aa590eab8f08f837b97acf5803a5737ed##