Common Symptoms
Intestinal Lipid Malabsorption is an inherited metabolic disorder affecting Australian kelpies. Affected dogs typically show stunted growth and under development compared to unaffected littermates. Indistinguishable at birth, affected dogs develop signs of increased, indiscriminate appetite and produce loose, yellow, and poorly digested feces. Transition to a therapeutic diet with supplemented enzymes may reduce clinical signs. However, as affected dogs mature, they remain smaller and display dietary intolerance to a fatty diet.
Breed-Specific Information for the Australian Kelpie
The Mutation of the ACSL5 gene associated with Intestinal Lipid Malabsorption has been identified in the Australian kelpie, although its overall frequency in this breed is unknown. Of note, in one study, this mutation was not identified in 225 dogs tested from the Australian working kelpie population.
Testing Tips
Genetic testing of the ACSL5 gene will reliably determine whether a Australian kelpie is a genetic Carrier of Intestinal Lipid Malabsorption. Intestinal Lipid Malabsorption is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ACSL5 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian kelpies that are not carriers of the mutation have no increased risk of having affected pups.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
References
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O'Brien MJ, Beijerink NJ, Sansom M, Thornton SW, Chew T, Wade CM. A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep. 2020 Oct 26;10(1):18223.
[PubMed: 33106515]
