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Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.
Eur J Haematol. 2006 Jan; 76(1):75-8.EJ

Abstract

We present a case of intracellular vitamin B12 deficiency presenting with confusion, subacute combined degeneration of the cord, megaloblastic anaemia and intrinsic factor antibodies in the serum. Diagnosis was delayed by a normal serum B12 level and was confirmed by a grossly elevated serum homocysteine. There was a dramatic response to steroids. The patient was heterozygous for the transcobalamin (TC) II polymorphism 776C --> G. This case demonstrates the importance of functional assessment of intracellular B12 activity (e.g. serum homocysteine) in excluding B12 deficiency, the role of steroids in pernicious anaemia and a possible clinical correlation of a TCII polymorphism.

Authors+Show Affiliations

Department of Neurology, St Mary's Hospital, London, UK. dannyg@doctors.org.ukNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16343274

Citation

Gale, Daniel P., et al. "Steroid-responsive Functional B12 Deficiency in Association With Transcobalamin II Polymorphism 776C --> G." European Journal of Haematology, vol. 76, no. 1, 2006, pp. 75-8.
Gale DP, Cobbold JF, Chataway J. Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G. Eur J Haematol. 2006;76(1):75-8.
Gale, D. P., Cobbold, J. F., & Chataway, J. (2006). Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G. European Journal of Haematology, 76(1), 75-8.
Gale DP, Cobbold JF, Chataway J. Steroid-responsive Functional B12 Deficiency in Association With Transcobalamin II Polymorphism 776C --> G. Eur J Haematol. 2006;76(1):75-8. PubMed PMID: 16343274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G. AU - Gale,Daniel P, AU - Cobbold,Jeremy F, AU - Chataway,Jeremy, PY - 2005/12/14/pubmed PY - 2006/3/2/medline PY - 2005/12/14/entrez SP - 75 EP - 8 JF - European journal of haematology JO - Eur J Haematol VL - 76 IS - 1 N2 - We present a case of intracellular vitamin B12 deficiency presenting with confusion, subacute combined degeneration of the cord, megaloblastic anaemia and intrinsic factor antibodies in the serum. Diagnosis was delayed by a normal serum B12 level and was confirmed by a grossly elevated serum homocysteine. There was a dramatic response to steroids. The patient was heterozygous for the transcobalamin (TC) II polymorphism 776C --> G. This case demonstrates the importance of functional assessment of intracellular B12 activity (e.g. serum homocysteine) in excluding B12 deficiency, the role of steroids in pernicious anaemia and a possible clinical correlation of a TCII polymorphism. SN - 0902-4441 UR - https://www.unboundmedicine.com/medline/citation/16343274/Steroid_responsive_functional_B12_deficiency_in_association_with_transcobalamin_II_polymorphism_776C___>_G_ L2 - https://doi.org/10.1111/j.1600-0609.2005.00563.x DB - PRIME DP - Unbound Medicine ER -