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Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

Description

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.

Recommended Breeding

Diseases

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

$60.00

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

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.

Gene:

ALDH5A1

Variant Detected:

c.866G>A missense mutation

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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