Imerslund-Gräsbeck syndrome is a vitamin B12 (also known as cobalamin) deficiency characterized by its malabsorption accompanied by selective proteinuria. Vitamin B12 is water-soluble vitamin, important for cell metabolism in higher organisms.
Affected dogs exhibit signs of cobalamin deficiency including failure-to-thrive, abnormal formation of blood cells, and methyl-malonic aciduria within 8–12 weeks of birth. Affected Border Collies also exhibit intermittent anorexia, chronic anaemia and neutropenia, poor weight gain, and poor muscle mass for several weeks or months. Severe metabolic dysregulation, including hepatic encephalopathy and/or ketoacidosis, occur in some cases.
Inheritance: autosomal recessive - read more
Mutation: CUBN gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: Border collie, Beagle
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.