Transcobalamin ii deficiency in four cases with novel mutations Yeni Mutasyonu Olan Dört Transkobalamin II Eksikliği Olgusu

Creative Commons License

ÜNAL Ş., Rupar T., Yetgin S., Yaralı N. , DURSUN A., Gürsel T., ...More

Turkish Journal of Hematology, vol.32, no.4, pp.317-322, 2015 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.4274/tjh.2014.0154
  • Title of Journal : Turkish Journal of Hematology
  • Page Numbers: pp.317-322
  • Keywords: Novel deletion, Novel mutation, Transcobalamin II, Vacuolization, Vitamin B12


© 2015 Turkish Society of Hematology. All rights reserved.Objective: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. Materials and Methods: Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations. Results: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del). Conclusion: Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting.