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 journalArticlepeer-review

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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