Studies on cultured fibroblasts in a case of methylmalonic aciduria.
A case of methylmalonic aciduria is described. The clinical course was unusually mild, the child surviving to the age of 8 years. Studies on cultured fibroblasts confirmed a defect in propionate metabolism which was non-responsive to hydroxycobalamin in vitro. Polyethylene-glycol-induced cell fusion with a known methylmalonyl co-enzyme apomutase-deficient cell line showed genetic complementation indicating that in this patient the defect was in one of the enzymes required for 5-deoxyadenosyl cobalamin synthesis.
D001051:Apoenzymes / Q000172:deficiency; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006879:Hydroxocobalamin / Q000494:pharmacology; D066298:In Vitro Techniques; D007223:Infant; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency; D011422:Propionates / Q000378:metabolism
D001051:Apoenzymes; D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D006879:Hydroxocobalamin