Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
OMIA
2585
Gene Name
ACADM
Mutation
g.71401388_71401389delinsCATAATTCTTAGACAATATTGAGAATTAAC
Mutation 2
c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG
Mutation 3
p.(T150Ifs*6)
Test Type
Genetic Disease/Disorder
Details
Clinical signs include seizures and lethargy, less responsive, and ataxia. Symptoms can occur several times a week, with acute effects for 20 mins and hours of lethargy. Age of onset could be young (e.g. 1-2 years). Christen et al. (2022). Standard anticonvulsant medications not effective alone, but some control or improvement through a prescribed a low-fat diet and a "midnight snack consisting of carbohydrates". Christen et al. (2022) From the researcher: "While the ACADM variant causes the biochemical alteration in the blood acylcarnitine profiles, it is not fully clear whether the MCAD deficiency is also the (only) cause of the clinical signs of the studied patient...The improvement of clinical signs upon changing to a low-fat diet in our index case indicates that the diet has a major influence on the clinical phenotype. At this time, we cannot exclude the possibility that additional genetic factors also modified the clinical phenotype." Christen et al. (2022) Research continues.
Published
2022 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) 13:1847, 2022. Pubmed reference: 36292732. DOI: 10.3390/genes13101847.
Published 2
2007 Platt, S., McGrotty, Y.L., Abramson, C.J., Jakobs, C. :Refractory seizures associated with an organic aciduria in a dog. J Am Anim Hosp Assoc 43:163-7, 2007. Pubmed reference: 17473023. DOI: 10.5326/0430163.
OMIA Url
Inheritance
Multifactorial
Breed Specific Info
Researched Breeds
Cavalier King Charles Spaniel