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Imerslund-Grasbeck Syndrome (I-GS), AMN-related

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
Imerslund-Grasbeck Syndrome (I-GS), AMN-related
Mutation
c.1113_1145del
Mutation 2
c.3G>A
Test Type
Genetic Disease/Disorder
Details
Imerslund?Gräsbeck syndrome is an autosomal recessive disorder of dogs which can present as a medical emergency. Symptoms include: failure to thrive, anorexia, low white blood cells, anemia, defective blood formation, decreased immunity, vitamin B12 deficiency, metabolic disorders, excess ammonia in the blood, and protein in urine. Age of onset from 12 weeks. Awareness of the disorder and breed predispositions to I?GS is crucial to precisely diagnose and promptly treat.
Details 2
Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund?Gräsbeck syndrome; I?GS), is an autosomal recessive disorder of dogs caused by mutations in AMN or CUBN that disrupt cubam function and which can present as a medical emergency... Juvenile?affected... exhibited failure to thrive, dyshematopoiesis with neutropenia, serum cobalamin deficiency, methylmalonic aciduria, hyperammonemia, and proteinuria. Affected dogs' kidneys lacked detectable cubilin protein... Awareness of the disorder and breed predispositions to I?GS is crucial to precisely diagnose and promptly treat hereditary cobalamin malabsorption and to prevent disease in those dogs at risk in future generations. (Fyfe et al, 2014)
Published
He, Q., Madsen, M., Kilkenney, A., Gregory, B., Christensen, E.I., Vorum, H., Hojrup, P., Schaffer, A.A., Kirkness, E.F., Tanner, S.M., de la Chapelle, A., Giger, U., Moestrup, S.K., Fyfe, J.C. : Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 106:1447-53, 2005. Pubmed reference: 15845892. DOI: 10.1182/blood-2005-03-1197.
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