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Transcobalamin II deficiency: Case report and review of the literature

  • Hematology/Oncology
  • Published:
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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.

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Abbreviations

TCII:

Transcobalamin II

UBBC:

unsaturated serum cobalamin binding capacity

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Authors and Affiliations

  1. Department of Paediatrics, University of British Columbia, British Columbia Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada

    Y. Kaikov, L. D. Wadsworth & P. C. J. Rogers

  2. Department of Pathology, University of British Columbia, British Columbia Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada

    L. D. Wadsworth & P. C. J. Rogers

  3. Department of Veterans Affairs Medical Centre, Albany, New York, USA

    C. A. Hall

Authors
  1. Y. Kaikov
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  2. L. D. Wadsworth
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  3. C. A. Hall
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  4. P. C. J. Rogers
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Kaikov, Y., Wadsworth, L.D., Hall, C.A. et al. Transcobalamin II deficiency: Case report and review of the literature. Eur J Pediatr 150, 841–843 (1991). https://doi.org/10.1007/BF01955004

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  • DOI: https://doi.org/10.1007/BF01955004

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