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Open Access 01-01-2017 | Guidelines

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

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

Published in: Journal of Inherited Metabolic Disease | Issue 1/2017

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.

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Title: Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Authors: Martina Huemer
Daria Diodato
Bernd Schwahn
Manuel Schiff
Anabela Bandeira
Jean-Francois Benoist
Alberto Burlina
Roberto Cerone
Maria L. Couce
Angeles Garcia-Cazorla
Giancarlo la Marca
Elisabetta Pasquini
Laura Vilarinho
James D. Weisfeld-Adams
Viktor Kožich
Henk Blom
Matthias R. Baumgartner
Carlo Dionisi-Vici
Publication date: 01-01-2017
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 1/2017
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-016-9991-4

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