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: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.