Cobalamin pseudodeficiency due to a transcobalamin I deficiency.
Cobalamin (vitamin B12) deficiency warrants appropriate evaluation because cobalamin is necessary in certain biochemical functions. R-binder deficiency, which causes low cobalamin levels, is a rare and benign pseudodeficiency. If not further evaluated by determining levels of methylmalonic acid and homocysteine, however, such a patient would be given unneeded treatment. We report a case in which a patient has an R-binder deficiency, specifically transcobalamin I deficiency, with a low vitamin B12 level but no true vitamin B12 deficiency.
D003677:Deficiency Diseases / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D014155:Transcobalamins / Q000172:deficiency*; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis*
D014155:Transcobalamins