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Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is a metabolic disorder that affects the nervous system, causing seizures and altered behaviour.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 35 |
| Mutation | c.866G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | SSADHD |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 32887425
Year published: 2020
Omia ID: 2250
Omia variant ID: 1240