Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon

  • 87 Accesses

  • 6 Citations

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Altay C, Cetin M, Gümrük F, Irken G, Yetgin S (1995) Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients. Pediatr Hematol Oncol 12: 19–28

  2. 2.

    Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrop SK, de la Chapelle A, Krahe R (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 21: 309–313

  3. 3.

    Burman JF, Jenkins WJ, Walker-Smith JA, Phillips AD, Sourial NA, Williams CB, Mollin DL (1985) Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck-syndrome (familial vitamin B12 malabsorption with proteinuria). Gut 26: 311–314

  4. 4.

    Christensen EI, Birn H (2001) Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule. Am J Physiol Renal Physiol 280: F562–F573

  5. 5.

    Kozyraki R, Fyfe J, Verroust PL, Jacobsen C, Dautry-Varsat A, Gburek J, Willnow TE, Christensen EI, Moestrop SK (2001) Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. Proc Natl Acad Sci USA 98: 12491–12496

  6. 6.

    Moestrop SK, Verroust PL (2001) Megalin- and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia. Annu Rev Nutr 21: 407–428

Download references

Author information

Correspondence to Jochen Rössler.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Rössler, J., Breitenstein, S. & Havers, W. Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. Eur J Pediatr 162, 808–809 (2003). https://doi.org/10.1007/s00431-003-1306-8

Download citation

Keywords

  • Proteinuria
  • Methylmalonic
  • Renal Proximal Tubule
  • Megaloblastic Anaemia
  • Methylmalonic Acid