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Guidelines for the diagnosis and treatment of cobalamin and folate disorders.

British journal of haematology (2014-06-20)
Vinod Devalia, Malcolm S Hamilton, Anne M Molloy
ABSTRACT

The clinical picture is the most important factor in assessing the significance of test results assessing cobalamin status because there is no 'gold standard' test to define deficiency. Serum cobalamin currently remains the first-line test, with additional second-line plasma methylmalonic acid to help clarify uncertainties of underlying biochemical/functional deficiencies. Serum holotranscobalamin has the potential as a first-line test, but an indeterminate 'grey area' may still exist. Plasma homocysteine may be helpful as a second-line test, but is less specific than methylmalonic acid. The availability of these second-line tests is currently limited. Definitive cut-off points to define clinical and subclinical deficiency states are not possible, given the variety of methodologies used and technical issues, and local reference ranges should be established. In the presence of discordance between the test result and strong clinical features of deficiency, treatment should not be delayed to avoid neurological impairment. Treatment of cobalamin deficiency is recommended in line with the British National Formulary. Oral therapy may be suitable and acceptable provided appropriate doses are taken and compliance is not an issue. Serum folate offers equivalent diagnostic capability to red cell folate and is the first-line test of choice to assess folate status.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Folic acid, ≥97%
Sigma-Aldrich
Folic acid, BioReagent, suitable for cell culture, suitable for insect cell culture, suitable for plant cell culture, ≥97%
Supelco
Folic acid, Pharmaceutical Secondary Standard; Certified Reference Material
Sigma-Aldrich
Folic acid, meets USP testing specifications
Folic acid, European Pharmacopoeia (EP) Reference Standard
Hydroxocobalamin, European Pharmacopoeia (EP) Reference Standard
USP
Folic acid, United States Pharmacopeia (USP) Reference Standard