MCAD Deficiency

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD deficiency) is an autosomal recessive hereditary disease described in Cavalier King Charles Spaniels. It is characterized by defect of MCAD enzyme that is crucial for metabolism of medium-chain fatty acids (MCFAs) that serve as energy source for the body. In MCAD deficient individuals, unmetabolized MCFAs accumulate in different tissues, resulting in insufficient production of energy out of ketone bodies during times of extended fasting or acute stress. The symptoms show in young dogs and include lethargy, hypoketotic hypoglycemia, vomiting, hepatomegaly and liver dysfunction that can eventually result in encephalopathy, seizures, coma and even death. Affected dogs often have to be on a strict low-fat diet to retain normal neurological function.

Inheritance: autosomal recessive

Mutation: ACADM gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.