Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria.
The intracellular content and proportional distribution of B12 (cobalamin) derivatives in fibroblasts cultured from patients with various forms of methylmalonic aciduria, as well as from normal control subjects, has been determined by a two-dimensional chromatobioautographic technique. Each line of fibroblasts was grown in the presence of four concentrations of cobalamin, ranging from the 0.04-0.07 pmol/ml contained in the basal medium to 74 pmol/ml (100 ng/ml), added in form of hydroxocobalamin (OH-CHl). Control cells grown in the basal medium contained substantial proportions of both methylcobalamin (MeCbl) and adenysylcobalamin (AdoCbl), with the former predominating. As increasing concentrations of OH-CBl were added to the growth medium, the total cellular cobalamin content increased without marked changes in the relative proportions of MeCbl, AdoCbl, and OH-Cbl. Three different patterns were discernable in the cobalamin distributions of the cells cultured from patients with methylmalonic aciduria (Table 1 and Fig. 1).
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D002478:Cells, Cultured; D002845:Chromatography; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D008314:Malonates / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency; D014805:Vitamin B 12 / Q000378:metabolism*
D008314:Malonates; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12