Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs (original) (raw)

Pediatric Research volume 29, pages 24–31 (1991)Cite this article

Abstract

ABSTRACT: Inherited selective intestinal malabsorption of cobalamin (Cbl) was observed in a family of giant schnauzer dogs. Family studies and breeding experiments demonstrated simple autosomal recessive inheritance of this disease. Affected puppies exhibited chronic inappetence and failure to thrive beginning between 6 and 12 wk of age. Neutropenia with hypersegmentation, anemia with anisocytosis and poikilocytosis, and megaloblastic changes of the bone marrow were present. Serum Cbl concentrations were low, and methylmalonic atiduria and homocysteinemia were present. Parenteral, but not oral, cyanocobalamin administration rapidly eliminated all signs of Cbl deficiency except for low serum Cbl concentrations. Cbl malabsorption in affected dogs was documented by oral administration of [57Co]cyanocobalamin with or without simultaneous oral administration of intrinsic factor or normal dog gastric juice. Quantitation and function studies of intrinsic factor and transcobalamin-II from affected dogs revealed no abnormality. Other gastrointestinal functions and ileal morphology were normal, indicating a selective defect of Cbl absorption at the level of the ileal enterocyte. Immunoelectron microscopy of ileal biopsies showed that the receptor for intrinsic factor-Cbl complex was absent from the apical brush border microvillus pits of affected dogs. This canine disorder resembles inherited selective intestinal Cbl malabsorption (Imerslund-Grasbeck syndrome) in humans, and is a spontaneously occurring animal model of early onset Cbl deficiency.

Similar content being viewed by others

Article PDF

Author information

Authors and Affiliations

  1. Sections of Medical Genetics, School of Veterinary Medicine University of Pennsylvania, Philadelphia, 19104, Pennsylvania
    John C Fyfe, Urs Giger, Peter F Jezyk & Donald F Patterson
  2. Pathology, School of Veterinary Medicine University of Pennsylvania, Philadelphia, 19104, Pennsylvania
    Sherry A Klumpp
  3. Nutrition Laboratory for Clinical Assessment and Research, Veterans Administration Medical Center, Albany, 12208, New York
    Charles A Hall
  4. University of Colorado Health Sciences Center, Denver, 80262, Colorado
    Joel S Levine

Authors

  1. John C Fyfe
    You can also search for this author inPubMed Google Scholar
  2. Urs Giger
    You can also search for this author inPubMed Google Scholar
  3. Charles A Hall
    You can also search for this author inPubMed Google Scholar
  4. Peter F Jezyk
    You can also search for this author inPubMed Google Scholar
  5. Sherry A Klumpp
    You can also search for this author inPubMed Google Scholar
  6. Joel S Levine
    You can also search for this author inPubMed Google Scholar
  7. Donald F Patterson
    You can also search for this author inPubMed Google Scholar

Rights and permissions

About this article

Cite this article

Fyfe, J., Giger, U., Hall, C. et al. Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs.Pediatr Res 29, 24–31 (1991). https://doi.org/10.1203/00006450-199101000-00006

Download citation

This article is cited by