Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Grasbeck syndrome) in juvenile Beagles.

ABSTRACT:

Background

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.

Objectives

To describe the clinical, metabolic, and genetic bases of I-GS in Beagles.

Animals

Four cobalamin-deficient and 43 clinically normal Beagles and 5 dogs of other breeds.

Methods

Clinical description and candidate gene genetic study. Urinary organic acid and protein excretion were determined by gas-chromatography and SDS-PAGE, respectively. Renal cubilin protein expression was assessed on immunoblots. Mutation discovery was carried out by PCR amplification and DNA sequencing of exons with f

SUBMITTER: Fyfe JC 

PROVIDER: S-EPMC3959579 | biostudies-literature | 2014 Mar-Apr

REPOSITORIES: biostudies-literature