Results showed unmeasurably low cobalamin levels and genetic testing confirmed Sam has IGS, which is an autosomal recessive condition. This genetic condition is caused by a deletion in the CUBN gene, which means affected dogs cannot absorb cobalamin from food in their small intestine. Cobalamin, which is vitamin B12, is a vitamin involved in essential jobs such as red blood cell formation, energy metabolism and nerve function.
Affected puppies usually start to show signs at 6-12 weeks of age (once any cobalamin they received from their mother is depleted) and present with gradual signs of poor growth, weakness, anaemia and gut issues, rather than an emergency patients. There is only one other case report from 20 years ago where a puppy presented with hyperammonaemic encephalopathy because of this condition.