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European Journal of Pediatrics

, Volume 150, Issue 12, pp 841–843 | Cite as

Transcobalamin II deficiency: Case report and review of the literature

  • Y. Kaikov
  • L. D. Wadsworth
  • C. A. Hall
  • P. C. J. Rogers
Hematology/Oncology

Abstract

A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.

Key words

Transcobalamin II deficiency Macrocytic anaemia Failure to thrive 

Abbreviations

TCII

Transcobalamin II

UBBC

unsaturated serum cobalamin binding capacity

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Y. Kaikov
    • 1
  • L. D. Wadsworth
    • 1
    • 2
  • C. A. Hall
    • 3
  • P. C. J. Rogers
    • 1
    • 2
  1. 1.Department of PaediatricsUniversity of British Columbia, British Columbia Children's HospitalVancouverCanada
  2. 2.Department of PathologyUniversity of British Columbia, British Columbia Children's HospitalVancouverCanada
  3. 3.Department of Veterans Affairs Medical CentreAlbanyUSA

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