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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
Author: Huemer, Martina
Diodato, Daria
Schwahn, Bernd
Schiff, Manuel
Bandeira, Anabela
Benoist, Jean-Francois
Burlina, Alberto
Cerone, Roberto
Couce, Maria L.
Garcia-Cazorla, Angeles
la Marca, Giancarlo
Pasquini, Elisabetta
Vilarinho, Laura
Weisfeld-Adams, James D.
Kožich, Viktor
Blom, Henk
Baumgartner, Matthias R.
Dionisi-Vici, Carlo
Keywords: Remethylation Disorders
Rare Inherited Disorders
Doenças Genéticas
Issue Date: 30-Nov-2016
Publisher: Springer Verlag/ Society for the Study of Inborn Errors of Metabolism
Citation: J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30
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.
Description: PMC Free:
Peer review: yes
DOI: 10.1007/s10545-016-9991-4
ISSN: 0141-8955
Publisher Version:
Appears in Collections:DGH - Artigos em revistas internacionais

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