Saluki Encephalopathy (SE)
Kodas: H960
Short description
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is a metabolic disorder that affects the nervous system, causing seizures and altered behaviour.
General information
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is a metabolic disorder that affects the nervous system, causing seizures and altered behaviour. The disorder is found in the Saluki, and is caused by a recessive mutation to the gene ALDH5A1.
Specifications
| Breeds | |
|---|---|
| Gene | ALDH5A1 |
| Chromosome | 35 |
| Mutation | c.866G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SSADHD |
Clinical features
Affected puppies show signs of SSADHD between six and ten weeks of age. Symptoms include seizures, abnormal behaviour (including episodes of vocalization) and difficulty waking up. Depending on the dog’s quality of life is, owners may elect for euthanasia.
References
Pubmed ID: 32887425
Year published: 2020
Omia ID: 2250
Omia variant ID:
Turnaround information
- 10 working days