Succinic Semialdehyde Dehydrogenase Deficiency
A seizure disorder reported in Salukis has been determined to be due to a variant in the ALDH5A1 gene which causes Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. In addition to seizures, affected puppies can display abnormal behavior such as episodes of vocalization and difficulty being roused from sleep.
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Signs and symptoms
Affected dogs may have a history of seizures and behavioral changes, such as vocalization episodes and difficulty being roused from sleep. Puppies may appear uncoordinated or have a delayed ability to properly position their paws.
Clinical signs may be observed between 6 and 10 weeks of age. -
Diagnosis
Genetic testing, clinical signs, history, and ruling out other causes of similar symptoms can be used in conjunction to diagnose this disease. Your veterinarian may recommend magnetic resonance imaging (MRI) of the brain and cerebrospinal fluid (CSF) analysis.
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Treatment
Frank discussions about quality of life are warranted. Although clinical signs may not progress, many owners request that puppies be euthanized between 3 and 9 months of age for quality of life concerns (e.g. recurrent episodes of vocalization).
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What to do if your dog is at risk
Actions
- There are no effective treatments specifically for SSADH deficiency.
- Anticonvulsant therapy may help control seizures, but is not a cure for SSADH Deficiency.
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Genetic Information
This variant was first identified in Salukis.
Succinic Semialdehyde Dehydrogenase Deficiency is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the variant to show clinical signs from it.
Gene names:
ALDH5A1 Exon 7 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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