Vitamin B12 transport in blood. I. Congenital deficiency of transcobalamin II.
Some characteristics of vitamin B12 binding and transport in the serum of an infant with congenital hereditary transcobalamin II (TC II) deficiency were studied using the following parameters and methods: vitamin B12 level and binding capacity; electrophoretic mobility in polyacrylamide gel electrophoresis; various immunodiffusion and absorption experiments, using a specific anti-TC II antiserum and the patient's serum as antigen. The results of these studies point to a deficient synthesis of TC II. Parenteral administration of high doses of vitamin B12 was followed by rapid and complete clinical remission and the appearance of vitamin B12 binder in the alpha 2 region which is similar to "fetal binder." Thus, very high concentrations of vitamin B12, either carrier free or bound to this alpha 2 binder, were able to correct the disturbed physiology of TC II deficiency, presumably by normalization of DNA-thymine synthesis.
D006801:Humans; D012016:Reference Values; D014155:Transcobalamins / Q000172:deficiency* / Q000302:isolation & purification / Q000378:metabolism; D014805:Vitamin B 12 / Q000097:blood*
D014155:Transcobalamins; D014805:Vitamin B 12