Intestinal Lipid Malabsorption
Affected Genes: ACSL5
Inheritance: Autosomal Recessive
Variant(canFam6):
chr28:23531867-23635157: 103 kb deletion
Breed: Australian Kelpie
Australian Koolie Australian Working Kelpie
Koolie
General Information: Intestinal Lipid Malabsorption (ILM) is a genetic condition that disrupts the normal absorption of fats from the diet in dogs. Affected puppies are typically indistinguishable from their littermates at birth, but soon exhibit signs of stunted growth and underdevelopment. They often display an insatiable appetite and produce loose, yellow stools that are poorly digested. These symptoms can improve with a therapeutic diet and enzyme supplements, but affected dogs usually remain smaller than their peers and show dietary intolerance to high-fat foods as they mature.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for ILM focuses on the ACSL5 gene, which identifies carriers of the genetic variant responsible for this disorder. ILM is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers, with one normal variant and one mutated variant, do not show symptoms but can pass the mutated variant on to their offspring. To avoid producing affected puppies, it's recommended to breed carriers only with dogs that do not carry the mutated variant. This strategy helps maintain healthier breeding lines and reduces the prevalence of ILM in the canine population.
References:
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 10(1):18223.