Succinic semialdehyde dehydrogenase deficiency(SSADHD)
Also known as: SSADH deficiency · Succinat-Semialdehyd-Dehydrogenase-Mangel · SSADH-Mangel · GABA metabolism disorder · Succinat-Semi-Aldehyd-Dehydrogenase-Mangel (Saluki) · …
Overview
What it is
This is an inherited metabolic disorder, also known as Saluki encephalopathy or central nervous system status spongiosus, that affects the brain and nervous system. It is caused by a genetic defect that prevents the body from properly breaking down GABA, which is an important chemical messenger in the brain. This failure leads to a toxic buildup of metabolic byproducts that damages brain tissue over time.
How it presents
Symptoms typically become visible during puppyhood or adolescence. Owners will usually notice severe seizures, uncoordinated movement or wobbling, muscle weakness, and developmental delays.
Treatment
There is no cure for this progressive condition, and management is limited to lifelong supportive care to control seizures. The estimated cost for diagnostic testing and palliative treatment ranges from 1,000 to 5,000 EUR.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) DNA-Test(SSADHD)
Primary testDNA testEin molekularbiologischer Gentest zum Nachweis der ursächlichen Mutation im ALDH5A1-Gen, die zu einem Mangel an Succinat-Semialdehyd-Dehydrogenase führt.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Succinic semialdehyde dehydrogenase deficiency?
This is an inherited metabolic disorder, also known as Saluki encephalopathy or central nervous system status spongiosus, that affects the brain and nervous system. It is caused by a genetic defect that prevents the body from properly breaking down GABA, which is an important chemical messenger in the brain. This failure leads to a toxic buildup of metabolic byproducts that damages brain tissue over time.
How is Succinic semialdehyde dehydrogenase deficiency tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.