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Diagnostic pathway and management of the patient with a suspected remethylation disorder

Legend: Met, methionine; MMA, methylmalonic acid; MTHFD1, methylenetetrahydrofolate dehydrogenase 1; MTHFR, methylenetetrahydrofolate reductase; N, normal; OHCbl, hydroxotranscobalamin; TC, transcobalamin VitB12, tHcy, total homocysteine; vitamin B12. Notes: (1) All biochemical results refer to pre-treatment samples; (2) Multiple typographical errors in the original figure have been corrected by Dr. Douglas J Lanska. (Source: Huemer M, Diodato D, Schwahn B, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 2017;40[1]:21-48. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0.)

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