Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto B. Burlina, Roberto Cerone, Maria L. Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld-Adams, Viktor Kožich, Henk J. Blom, Matthias R. Baumgartner, Carlo Dionisi-Vici

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.

OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.

DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.

KEY RECOMMENDATIONS: We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.

Original languageEnglish
Pages (from-to)21-48
Number of pages28
JournalJournal of Inherited Metabolic Disease
Volume40
Issue number1
DOIs
Publication statusPublished - Dec 18 2016

Keywords

  • Journal Article

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    Huemer, M., Diodato, D., Schwahn, B., Schiff, M., Bandeira, A., Benoist, J-F., Burlina, A. B., Cerone, R., Couce, M. L., Garcia-Cazorla, A., la Marca, G., Pasquini, E., Vilarinho, L., Weisfeld-Adams, J. D., Kožich, V., Blom, H. J., Baumgartner, M. R., & Dionisi-Vici, C. (2016). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1), 21-48. https://doi.org/10.1007/s10545-016-9991-4