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Medium-chain acyl-CoA Dehydrogenase (MCAD) (Cavalier King Charles Spaniel Type)

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Test Overview:

Acyl-CoA dehydrogenase is an enzyme that is responsible for converting the fats to alternative energy sources. Deficiency in this enzymes results in impaired processing of 'medium chained' fatty acids. Characteristics of this disease include prolonged lethargy, complex seizures and proprioceptive ataxia.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

ACADM

Variant Detected:

c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Medium-chain acyl-CoA Dehydrogenase.

Research Citation(s):

Christen, M., Bongers, J., Mathis, D., Jagannathan, V., Quintana, R.G., Leeb, T. : ACADM frameshift variant in Cavalier King Charles Spaniels with medium-chain acyl-CoA dehydrogenase deficiency. Genes (Basel) 13, 2022. Pubmed reference: 36292732

Associated Breed(s):

Cavador, Cavalier King Charles Spaniel, Cavapoo, Cavoodle,

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