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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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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
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.
Características clínicas
La deficiencia de vitamina B12 causada por el IGS se hace evidente en los cachorros afectados entre los 2 y los 5 meses de edad. Los síntomas incluyen falta de apetito, retraso del crecimiento, debilidad, vómitos, diarrea y, posiblemente, temblores y convulsiones.
Información adicional
Referencias
Pubmed ID: 30591068
Omia ID: 1786