Transcobalamin II deficiency: case report and review of the literature

Eur J Pediatr. 1991 Oct;150(12):841-3. doi: 10.1007/BF01955004.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Failure to Thrive
  • Humans
  • Infant
  • Male
  • Transcobalamins / deficiency*
  • Vitamin B 12 / metabolism
  • Vitamin B 12 / therapeutic use


  • Transcobalamins
  • Vitamin B 12