AbstractBackground: Current tests for evaluation of vitamin B12 absorption are problematic because they involve the use of radioactively labeled vitamin B12. We describe a vitamin B12 absorption test that circumvents this problem.Methods: We measured cobalamin or transcobalamin saturated with cobalamin (holo-TC) 24 h after three 9-μg doses of vitamin B12 given orally at 6-h intervals. We studied 17 patients with inherited malabsorption of vitamin B12 attributable to Imerslund–Grasbeck syndrome (n = 13) or intrinsic factor deficiency (n = 4), their obligate heterozygous biological parents (n = 19), and healthy controls (n = 44).Results: In the patients, the median (range) change of holo-TC after the B12 load was not significant [1 (−42 to 5) pmol/L], nor was the change of cobalamin [−3 (−32 to 22) pmol/L], consistent with a lack of measurable active or passive absorption. In controls, however, the median (range) increases of holo-TC and cobalamin were 26 (−6 to 63) pmol/L and 41 (−37 to 109) pmol/L, respectively. Similarly, the parents showed increases of 23 (−2 to 47) pmol/L and 27 (−15 to 94) pmol/L. The mean areas under the ROC curves (95% confidence intervals) were 0.97 (0.93–1.0) for holo-TC and 0.87 (0.79–0.94) for cobalamin, distinguishing patients from controls. At a cutoff of 6 pmol/L for holo-TC, the diagnostic sensitivity (95% confidence interval) was 100 (81–100)%, and the diagnostic specificity was 92 (82–97)%.Conclusion: Measurement of holo-TC after administration of vitamin B12 is a promising approach for evaluating vitamin B12 absorption.
Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency
