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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.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Vitamin B12-mangel forårsaket av IGS blir tydelig hos berørte valper mellom 2 og 5 måneder. Symptomer inkluderer mangel på appetitt, mistrivsel, svakhet, oppkast, diaré og muligens skjelvinger og anfall.
Tilleggsinformasjon
Referanser
Pubmed ID: 30591068
Omia ID: 1786