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Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption, is a disorder in which the intestines fail to absorb enough Vitamin B12.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption, 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.

Kliniske egenskaper

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.

Tilleggsinformasjon

Referanser

Pubmed ID: 30591068

Omia ID: 1786

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