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Congenital cobalamin malabsorption (Imerslund‐Gräsbeck syndrome) in two Beagles in the UK
Author(s) -
Murtagh Kevin,
Batchelor Daniel,
German Alex,
Piviani Martina,
Silvestrini Paolo
Publication year - 2015
Publication title -
veterinary record case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.165
H-Index - 4
ISSN - 2052-6121
DOI - 10.1136/vetreccr-2015-000201
Subject(s) - cobalamin , lethargy , beagle , medicine , vomiting , malabsorption , neutropenia , gastroenterology , pediatrics , vitamin b12 , chemotherapy
Two immature Beagles, one nine months old and one six months old, presented with a variety of clinical signs, including pyrexia, lethargy, weight loss and intermittent vomiting and diarrhoea in one Beagle and severe lethargy, haemorrhagic diarrhoea and vomiting in the second. Investigations in both cases demonstrated a serum cobalamin below the detection limit of the assay. Genetic testing confirmed a CUBN:c.786delC mutation in a homozygous state, confirming Imerslund‐Gräsbeck syndrome (IGS) in both Beagles. Both Beagles responded rapidly and completely to parenteral cobalamin supplementation. Both dogs are currently normal, receiving cobalamin subcutaneously every two weeks. This is the first report of genetically confirmed IGS in the Beagle breed in the UK.