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Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 6 |
| Mutation | c.444_445delins |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | MCAD; MCADD |
Informations générales
Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism. A recessive mutation to the gene ACADM causes an MCAD deficiency (MCADD). This results in a build-up of medium-chain fatty acids, causing neurological symptoms such as fatigue and seizures. In dogs, MCAD Deficiency is found in the Cavalier King Charles Spaniel.
Caractéristiques cliniques
Dogs affected by MCADD experience a form of epileptic attacks known as complex focal seizures. These episodes are characterized by fatigue/letharghy, decreased awareness and responsiveness, and ataxia (a loss of coordination). They may last anywhere between 20 minutes to multiple hours. The onset of the disease is expected to be between 1 and 2 years of age.
Additional Information
Références
Pubmed ID: 36292732
Year published: 2022
Omia ID: 2585
Omia variant ID: