Disease overview

Intestinal cobalamin malabsorption, also known as Imerslund-Gräsbeck syndrome, is characterized by the inability of the intestinal tract to absorb the proper amount of cobalamin (vitamin B12). Vitamin B12 is an essential nutrient in the body that supports a range of important processes in the body, including the development, myelination, and function of the central nervous system.

Gene name

CUBN

Inheritance

Autosomal recessive

Signs and symptoms

Dogs with this disorder exhibit "failure to thrive" and are unable to grow or mature properly. Diagnostic tests may reveal clinical signs such as protein in the urine, high levels of ammonia in the blood, and/or low levels of cobalamin.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Diagnostic tests can determine if there is cobalamin malabsorption. Genetic testing can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Owczarek-Lipska M, Jagannathan V, Drögemüller C, Lutz S, Glanemann B, Leeb T, Kook PH. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS One. 2013 Apr 16;8(4):e61144. doi: 10.1371/journal.pone.0061144. PMID: 23613799; PMCID: PMC3628801.

Fyfe JC, Hemker SL, Venta PJ, Stebbing B, Giger U. Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles. J Vet Intern Med. 2014 Mar-Apr;28(2):356-62. doi: 10.1111/jvim.12284. Epub 2014 Jan 16. PMID: 24433284; PMCID: PMC3959579.

Fyfe JC, Hemker SL, Frampton A, Raj K, Nagy PL, Gibbon KJ, Giger U. Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. BMC Vet Res. 2018 Dec 27;14(1):418. doi: 10.1186/s12917-018-1752-1. PMID: 30591068; PMCID: PMC6309081.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.