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Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12.
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Caractéristiques
Breeds | |
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Gene | |
Organ | |
specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informations générales
Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12. This variant, caused by a recessive mutation to the gene CUBN, is found in the Komondor. Closely related variants also occur in the Border Collie and Beagle.
Caractéristiques cliniques
Vitamin B12 deficiency caused by IGS becomes apparent in affected puppies between 2 and 5 months of age. Symptoms include lack of appetite, failure to thrive, weakness, vomiting, diarrhoea and possibly tremors and seizures.
Additional Information
Références
Pubmed ID: 30591068
Omia ID: 1786