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Transcobalamin II deficiency: Case report and review of the literature

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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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

Key words

  • Transcobalamin II deficiency
  • Macrocytic anaemia
  • Failure to thrive