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Cobalamin Malabsorption: Cubilin Deficiency (Border Collie Type) Overview

Cobalamin Malabsorption: Cubilin Deficiency (Border Collie Type)
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells

Gene: Cubilin (CUBN) on chromosome 2

Variant Detected: Nucleotide Deletion c.8392delC p.Gln2798Argfs*3

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Intestinal cobalamin malabsorption (border collie type) is an inherited disease affecting dogs. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

Research Citation(s): Fyfe JC, et al. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. (2013) Mol Genet Metab, 109(4):390-6.

Associated Breed(s): Border Collie,  Koolie ,  Mixed Breed,