Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
General description
In the breed Saluki, a genetic variant has been found to be associated with a neurometabolic disease called Succinic semialdehyde dehydrogenase deficiency (SSADHD). Affected puppies usually show first signs of the disease at the age of 6-10 weeks. Typical symptoms are neurological abnormalities, seizures and change in behaviour. Owners of affected puppies reported that their dogs show episodes of vocalization, a mild generalized ataxia and also lethargy, so that owners often have difficulties to wake up the puppies.
Breeds
Saluki
Order details
| Test number | 8615 |
| Abbreviation | SSADHD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6-10 weeks |
| Causality | causally |
| Gene | ALDH5A1 |
| Mutation | G-A |
| Literature | OMIA:002250-9615 |
Detailed description
In the breed Saluki, a genetic variant has been found to be associated with a neurometabolic disease called Succinic semialdehyde dehydrogenase deficiency (SSADHD). SSADHD is caused by an enzyme deficiency that impairs the metabolism of gamma-aminobutric acic (GABA), which is an important neurotransmitter of the central nervous system.
Affected puppies usually show first signs of the disease at the age of 6-10 weeks. Typical symptoms are neurological abnormalities, seizures and change in behaviour. Owners of affected puppies reported that their dogs show episodes of vocalization, a mild generalized ataxia and also lethargy, so that owners often have difficulties to wake up the puppies. Further abnormalities are absent menace reflexes in both eyes, thoracic limb hypermetria and delayed proprioceptive positioning in all four limbs. Elevated concentrations of gamma-hydroxybutyric (GHB) acid could be found in serum, while the concentrations of succinic semialdehyde (SSA) are elevated in urine.
Because of the severe symptoms, affected puppies are often euthanized at the age of 3-9 months.
