Australian Shepherd Health & Genetics Institute

Australian Shepherd Health & Genetics Institute

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Hereditary Cobalamin Malabsorbtion FAQs


What is hereditary cobalamin malabsorbtion (HCM)?

Dogs with HCM cannot absorb vitamin B12 in the gut.  Cobalamin malabsorbtion can be secondary to (caused by) other diseases but the primary form is hereditary.  Symptoms are highly varied and can mimic many other diseases including exocrine pancreatic insufficiency, porto-systemic (liver) shunt, and early-onset intractable epilepsy.  Severity of the disease is also highly variable; in the worst cases it can be fatal.  Treatment is relatively simple and inexpensive – periodic Vitamin B12 shots.

 How is HCM inherited?

HCM is caused by a single gene and is recessive.  If a dog has HCM both of its parents carry the mutation that causes it.  Dogs affected with HCM should not be bred.  There is a DNA test available so siblings of the affected dog and the grandparents should be tested if they are to be bred.  Those which have the mutation and the parents, which must have it, should be bred only to clear-tested dogs.

 What dogs need to be tested?

Any dog that is a first-step relative of an affected dog or carrier dog. First step relatives are full- and half-siblings, parents, and offspring which may be used for breeding.  If testing reveals relatives that have the mutation, their remaining first-step relatives would require testing.  Example:  A dog produces an HCM pup and its sire is tested and found to be a carrier; all the sire’s parents and any of its siblings that are breeding animals would then require testing.

 How do I get my dog tested and what do results tell me?

The test is offered in the US by the University of Pennsylvania’s lab, PennGen.  We are not at this point aware of labs in other parts of the world that offer it.  Results will indicate whether your dog has one, two, or no copies of the mutated version of the HCM gene.  Dogs with two copies are affected and should not be bred.  If the dog’s illness was not already noted (some are only slightly affected) it should be brought to the attention of the dog’s veterinarian and the need for injectable B12 supplementation discussed.  If your dog has one copy of the mutation it is a carrier for HCM and should be breed only to clear-tested dogs.  If your dog does not have the mutation it is clear of HCM.

 Are exocrine pancreatic insufficiency (EPI) and cobalamin malabsorbtion the same thing?

No, though they are both metabolic diseases.  In EPI the pancreas isn’t functioning properly.  A dog with hereditary (primary) cobalamin malabsorbtion cannot absorb vitamin B12 through its gut.  Symptoms of these two very different diseases can overlap and dogs with EPI may have secondary cobalamin malabsorbtion.  Misdiagnosis isn’t unusual for either disease because both have varied symptoms that can mimic other diseases.  In addition, many vets aren’t aware of that cobalamin malabsorbtion may be hereditary so don’t know to test for it.  (There is a DNA test available.)    EPI is uncommon in Aussies, cobalamin malabsorbtion may not be.