Urinary excretion of intrinsic factor and the receptor for its cobalamin complex in Grasbeck-Imerslund patients: The disease may have subsets

Journal of Pediatric Gastroenterology and Nutrition

Volumn 29, Issue 2, 1999, Pages 227-230

  Dugué, Benoit ^a   Ismail, Essam ^b   Sequeira, Fatima ^c   Thakkar, Jitendra ^c   Gräsbeck, Ralph ^a,c  

^a MINERVA FOUNDATION INSTITUTE FOR MEDICAL RESEARCH   (Finland)

^b FARWANIYA HOSPITAL   (Kuwait)

^c KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN DERIVATIVE; INTRINSIC FACTOR; RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; ASSAY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; FAMILIAL DISEASE; HUMAN; MALABSORPTION; PATHOGENESIS; PRIORITY JOURNAL; URINARY EXCRETION;

ADOLESCENT; ADULT; ANEMIA, MEGALOBLASTIC; CHILD; FEMALE; HUMANS; INTRINSIC FACTOR; MALABSORPTION SYNDROMES; MALE; MIDDLE AGED; RECEPTORS, CELL SURFACE; REFERENCE VALUES; VITAMIN B 12;

EID: 0033506370     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-199908000-00025     Document Type: Article

References (30)

1. Gräsbeck R, Kouvonen I. The intrinsic factor and its receptor: Are all membrane transport systems related? Trends Biochem Sci 1983; 8:203-5.
2. Moestrup S, Kozyraki R, Kristiansen M, et al. The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins. J Biol Chem 1998;273:5235-42.
3. Kozyraki R, Kristiansen M, Silahtaroglu A, et al. The human intrinsic factor-vitamin B12 receptor, cubilin: Molecular characterisation and chromosal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 1998;91:3593-600.
4. Yérima A, Safi A, Gastin I, Michalsky J-C, Saunier M, Guéant J-L-Purification of cobalamin-Sepharose affinity chromatography and intrinsic factor binding activity of an extramembrane proteolytic product from pig ileal mucosa. Biochem J 1996;313:675-81.
5. Birn H, Verroust P, Nexø E, et al. Characterization of an epithelial 460-kDa protein that facilitates endocytosis of an intrinsic factor-vitamin B12 and binds receptor-associated protein. J Biol Chem 1997;272:26497-504.
6. Batuman V, Verroust P, Navar G, et al. Myeloma light chains are ligands for cubilin (gp280). Am J Physiol 1998;275:F246-54.
7. Seetharam B, Levine J, Ramasamy M, Alpers D. Purification, properties, and immunochemical localization of a receptor for intrinsic factor-cobalamin complex in the rat kidney. J Biol Chem 1988;263:4443-9.
8. Safi A, Saunier M, Gastin I, Alidaba Y, Dugué B, Guéant J-L. Intrinsic factor covalently bound to Sepharose as affinity medium for the purification of a soluble intrinsic factor-receptor from human urine. J Chromatogr B 1995;664:253-9.
9. Guéant J-L, Saunier M, Gastin I, et al. Decreased activity of intestinal and urinary intrinsic factor receptor in Gräsbeck-Imerslund disease. Gastroenterology 1995;108:1622-8.
10. Dugué B, Aminoff M, Aimone-Gastin I, Leppänen E, Gräsbeck R, Guéant J. A urinary radioisotope binding assay to diagnose the Grasbeck-Imerslund disease. J Pediatr Gastroenterol Nutr 1998; 26:21-5.
11. Ismail E, Saleh Q, Sabry M, Ghanim M, Zaki M. Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Gräsbeck-Imerslund syndrome) in two Bedouin families. Acta Paediatrica 1997;86:424-5.
12. Gräsbeck R, Wahlstedt V, Kouvonin I. Radioimmunoassay of urinary intrinsic factor. Lancet 1982;i:1330-2.
13. Wahlstedt V, Gräsbeck R. Cobalamin-binding proteins in human urine: Identification and quantitation. J Lab Clin Med 1985;106: 439-46.
14. Gräsbeck R, Salonen EM. Vitamin B12. Prog Food Nutr Sci 1976; 2:193-231.
15. Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, de la Chapelle A. Selective intestinal malabsorption of vitamin B12 displays recessive Mendelian inheritance: Assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 1995;57: 824-31.
16. Dugué B, Aminoff M, Nyman T, Wahlstedt-Fröberg V, Gräsbeck R. Transcobalamin and immunoreactive intrinsic factor in cerebrospinal fluid. In: Bhatt HJW, Besser G, Bottazo G, Keen H, eds. Advances in Thomas Addison's diseases, vol 1. Bristol, UK: Journal of Endocrinology; 1994;1(Suppl):357-61.
17. McKusick V, ed. Mendelian inheritance in man. Baltimore: Johns Hopkins University Press. 11th ed., 1994.
18. Gräsbeck R, Gordin R, Kantero I, Kuhlbäck B. Selective vitamin B12 malabsorption and proteinuria in young people. Acta Med Scand 1960;167:289-96.
19. Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr 1960;119(Suppl):1-15.
20. Aminoff M, Carter J, Chadwick R, et al. Mutation in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 1999;21:309-13.
21. Fyfe J, Ramanujam K, Ramaswamy K, Patterson D, Seetharam B. Defective brush-border expression of intrinsic factor-cobalamin receptor in canine inherited intestinal cobalamin malabsorption. J Biol Chem 1991;266:4489-94.
22. Abdelaal M, Ahmed A. Imerslund-Gräsbeck syndrome in a Saudi family. Acta Paediatr Scand 1991;80:1109-12.
23. Gräsbeck R. Selective cobalamin malabsorption and the cobalamin-intrinsic factor receptor. Acta Biochem Pol 1997;44:725-34.
24. Burman J, Jenkins W, Walker-Smith J, et al. Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Gräsbeck syndrome (familial vitamin B12 malabsorption with proteinuria). Gut 1985;26:311-4.
25. Mackenzie I, Donaldson R, Trier J, Mathan V. Ileal mucosa in familial selective vitamin B12 malabsorption. N Engl J Med 1972; 286:1021-5.
26. Ramanujam K, Seetharam S, Ramaswany M, Seetharam B. Renal brush border membrane bound intrinsic factor. Biochim Biophys Acta 1990;1030:157-64.
27. Eaton D, Livingston J, Seetharam B, Puntis J. Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. Gastroenterology 1998;115:173-6.
28. Robertson J, Gallagher N. Effect of placental lactogen on the number of intrinsic factor receptors in the pregnant mouse. Gastroenterology 1979;77:511-7.
29. Dugué B, Gräsbeck R. The influence of psychic stress and brain death on the intestinal receptor for the cobalamin-intrinsic factor complex in rats. Stress Med 1993;9:83-6.
30. Ramanujam K, Seetharam S, Seetharam B. Regulated expression of intrinsic factor-cobalamin receptor by rat visceral yolk sac and placental membranes. Biochim Biophys Acta 1993;1146:243-6.