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 including the development, myelination, and function of the central nervous system.

Gene name

AMN

Inheritance

Autosomal recessive

Signs and symptoms

Dogs with this disorder exhibit "failure to thrive" and are unable to grow or mature properly. They may present with vomiting, diarrhea and weakness. Diagnostic tests can reveal if there is protein in the urine, high levels of ammonia in the blood, and/or low levels of cobalamin. Cobalamin deficiency may increase the likelihood of secondary infections.

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

He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Højrup P, Schäffer AA, Kirkness EF, Tanner SM, de la Chapelle A, Giger U, Moestrup SK, Fyfe JC. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood. 2005 Aug 15;106(4):1447-53. doi: 10.1182/blood-2005-03-1197. Epub 2005 Apr 21. PMID: 15845892; PMCID: PMC1895201.

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.

Disclaimer

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