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Peer-reviewed veterinary case report

Dog with severe weakness and low vitamin B12

By Sancho, I M et al.·Published in The Journal of small animal practice·2021·Paragon Veterinary Referrals, United Kingdom·View original on PubMed

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Original publication title: Imerslund-Grasbeck syndrome in a cross-breed dog.

Species:
dog

Plain-English summary

An 18-month-old male neutered beagle cross was brought in for severe tiredness, weakness, and not eating. The vet found that he had low body weight, muscle loss, and some neurological issues, along with low vitamin B12 levels. After ruling out other possible causes, genetic testing showed he had mutations linked to Imerslund-Grasbeck syndrome, a rare condition affecting vitamin absorption. The dog responded very well to oral vitamin B12 supplements and showed no signs of relapse after four months.

People also search for: dog lethargy and weakness · beagle cross vitamin B12 deficiency · Imerslund-Grasbeck syndrome treatment

Abstract

Imerslund-Gräsbeck syndrome is an autosomal recessive disease reported only in certain pure-breed dogs. An 18-month-old, male neutered beagle cross-breed was presented for evaluation of severe lethargy, progressive weakness and anorexia. Main clinicopathological findings included low body condition score (2.5/9), severe muscle atrophy, several neurological abnormalities, mild normochromic, normocytic, non-regenerative anaemia, severe hypocobalaminemia and mild proteinuria. Extensive diagnostic tests ruled out most of differential diagnoses for the aforementioned clinicopathological abnormalities and genetic evaluation showed that the dog was heterozygous for two previously described mutations affecting the CUBN gene, the beagle and the border collie variants. The dog showed an excellent clinical response to oral cobalamin supplementation with no relapse after 4 months. In conclusion, this case creates awareness that Imerslund-Gräsbeck syndrome should be considered even in mixed-breed dogs with compatible clinical signs and that two different pathogenic CUBN mutations in compound heterozygosity can lead to a typical Imerslund-Gräsbeck syndrome phenotype.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33022748/