MCAD deficiency
MCAD deficiency
General description
MCAD affectes Cavalier King Charles Spaniel showed complex focal seizures with prolonged lethargy, lower responsiveness and proprioceptive ataxia. These conditions occurred several times a week and lasted from 20 minutes up to 24 hours.
Breeds
Cavalier King Charles Spaniel
Order details
| Test number | 8288 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ACADM |
| Mutation | COMPLEX |
| Literature | OMIA:002585-9615 |
Detailed description
In the breed Cavalier King Charles Spaniel, a mutation in ACADM gene causes medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Affected dogs showed complex focal seizures with prolonged lethargy, lower responsiveness and proprioceptive ataxia. These conditions occurred several times a week and lasted from 20 minutes up to 24 hours. Urine and blood analysis showed an elevated level of medium chain fatty acids. The symptoms improved under medical treatment and diet change towards low fat diet leading to several month without major seizures. The allele frequency within the CKCS population tested in the publication was 23,5%.
