Intestinal Cobalamin Malabsorption Beagle Type (IGS)

43.90 € inc. Vat

Other Names: Imerslund-Grasbeck syndrome
Acronyms: IGS
Gene: CUBN
Mutation: Deletion
Mode of inheritance: Autosomal recessive
Breeds: Beagle

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Product Description

Intestinal cobalamin malabsorption Beagle Type (IGS)

Intestinal cobalamin malabsorption Beagle Type (IGS) is a hereditiray disorder affecting Beagles. Cobalamin, known as vitamin B12, plays an important role in many metabolic and synthesis pathways. Animals, as well as other higher organisms, are unable to synthesize cobalamin and need to obtain it by dietary intake. The uptake of dietary cobalamin requires several endogenous proteins. In Beagles a mutation in a gene coding for cubilin occurs, a protein that together with amnionless protein constitutes a receptor for cobalamin-GIF complex. Mutation leads to cobalamin malabsorption which results in low levels of serum cobalamin, hyperhomocysteinemia and methylmalonic aciduria. Clinical signs include lethargy, inappetence, failure to gain weight and failure to grow, macrocytosis and neutropenia. In cobalamin-deficient Beagles a degenerative liver disease develops. Clinical recovery can be achieved with regular parenteral cobalamin supplementation. The carrier frequency is 9%.

 

References:

Drögemüller, M., Jagannathan, V., Howard, J., Bruggmann, R., Drögemüller, C., Ruetten, M., Leeb, T., and Kook, P.H. (2014). A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). Anim. Genet. 45, 148–150.

Fyfe, J.C., Hemker, S.L., Venta, P.J., Fitzgerald, C.A., Outerbridge, C.A., Myers, S.L., and Giger, U. (2013). An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. Mol. Genet. Metab. 109, 390–396.

Owczarek-Lipska, M., Jagannathan, V., Drögemüller, C., Lutz, S., Glanemann, B., Leeb, T., and Kook, P.H. (2013). A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS ONE 8, e61144.