Article
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Human mutation - 1 Sept 2016
Pupavac Mihaela, Watkins David, Petrella Francis, Fahiminiya Somayyeh, Janer Alexandre, Cheung Warren, Gingras Anne-Claude, Pastinen Tomi, Muenzer Joseph, Majewski Jacek, Shoubridge Eric A, Rosenblatt David S
Abstract excerpt
Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism are rare Mendelian disorders associated with hematological and neurological manifestations, and elevations of methylmalonic acid and/or homocysteine in the blood and urine. We describe...
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