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Paper Details

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
Mol Genet Metab Rep
4
2020
Arg332, MTFMT, MTFMT deficiency, Met, Met-tRNAMet, Mitochondrial methionyl, Mitochondrial methionyl-tRNA formyltransferase, c.994C, c.994C > T, cardiomyopathy, dichloroacetate, electron transport chain complexes I, III, IV, and V, lactate, lactic acidosis, methionyl, mitochondrial mRNA, mitochondrial translation disorder, neonatal lactic acidosis, nuclear-encoded gene, patient
Author NameAffiliation
Steven C GreenwayAlberta Children's Hospital Research Institute, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary
Marisa W FriederichSection of Clinical Genetics and Metabolism, University of Colorado
Marisa W FriederichChildren's Hospital Colorado
Johan L K Van HoveSection of Clinical Genetics and Metabolism, University of Colorado
Johan L K Van HoveChildren's Hospital Colorado
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