57,48 47,50 IVA esclusa

H755

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.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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. 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.

Caratteristiche cliniche

Dogs affected by MCAD 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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 36292732

Omia ID: 2585

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