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New Disorder of Vitamin B12 Metabolism (Cobalamin F) Presenting as Methylmalonic Aciduria

David S. Rosenblatt, Rachel Laframboise, Jeanne Pichette, Pierre Langevin, Bernard A. Cooper, Teresa Costa

Abstract

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into protein by whole cells and a decrease of methionine synthase activity in cell extracts. Despite excessive incorporation of [57Co]cyano-B12 by fibroblasts from the patient, free vitamin B12 was unable to efflux from lysosomes, and, therefore, synthesis of both adenosyl-B12 and methyl-B12 was impaired.

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Available abstract

Key concepts: Vitamin B12, Cobalamin, Medicine, Methylmalonic aciduria, Glossitis, Methylmalonic acid, Megaloblastic anemia, Hematinic