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Intestinal Lipid Malabsorption (Discovered in the Australian Kelpie)

Intestinal Lipid Malabsorption (ILM) is a disorder characterized by poor intestinal absorption and metabolism of dietary nutrients leading to stunted growth, an oddly textured hair coat, and abnormally fatty feces in affected dogs. The associated genetic variant has been identified in the Australian Kelpie.

Key Signs

Stunted growth, Abnormally wiry coat, Oily diarrhea, Abdominal distention, Increased appetite

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with ILM

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about ILM

Intestinal Lipid Malabsorption is a disorder where the intestines do not normally absorb long chain fatty acids. This can cause poor absorption and metabolism of dietary nutrients, leading to polyphagia (increased appetite), stunted growth, an oddly textured hair coat, and large quantities of steatorrhea (fatty stool). And, in contrast to other similar disorders of energy metabolism, affected dogs do not tend to show lethargy. Intestinal Lipid Malabsorption can present early in life, often before 6 weeks of age. Dietary and supplementary treatment can be helpful in normalizing the consistency of an affected puppy’s feces. Most affected dogs outgrow their presenting clinical signs by the age of 6 months. However, they are likely to continue to be thinner and smaller, have a low tolerance for fatty foods, and produce a higher quantity of feces than non-affected individuals.

Management of affected puppies includes transitioning to a solid diet and digestive enzyme supplementation. The majority of clinical signs appear to improve by about 6 months of age. Although, affected dogs tend to retain a lower tolerance for fatty foods and continue to produce higher volumes of feces.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Intestinal Lipid Malabsorption (Discovered in the Australian Kelpie) variant can be safely bred with a clear dog with no copies of the Intestinal Lipid Malabsorption (Discovered in the Australian Kelpie) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Furthermore, a dog with two copies of the Intestinal Lipid Malabsorption variant can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. However, in order to further reduce the prevalence of this variant in the breed population, use of dogs with one or two copies of the variant should be critically considered prior to matings. Please note: It is possible that disorder signs similar to the ones associated with this ILM variant could develop due to a different genetic or clinical cause.

Technical Details

Gene ACSL5
Variant Deletion
Chromosome 28
Coordinate Start 23,380,074
Coordinate End 23,483,377

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

O'Brien, M.J., Beijerink, N.J., Sansom, M., Thornton, S.W., Chew, T., Wade, C.M. (2020). A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep, 10(1), 18223. View the article