MCAD deficiency

LABOKLIN Service ID: 8288

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%.

Method	FLP
Breed list	Cavalier King Charles Spaniel
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab