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

2017-01Journal article Open access
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dc.contributor.authorHuemer, Martina
dc.contributor.authorDiodato, Daria
dc.contributor.authorSchwahn, Bernd
dc.contributor.authorSchiff, Manuel
dc.contributor.authorBandeira, Anabela
dc.contributor.authorBenoist, Jean-Francois
dc.contributor.authorBurlina, Alberto
dc.contributor.authorCerone, Roberto
dc.contributor.authorCouce, Maria L
dc.contributor.authorGarcia-Cazorla, Angeles
dc.contributor.authorla Marca, Giancarlo
dc.contributor.authorPasquini, Elisabetta
dc.contributor.authorVilarinho, Laura
dc.contributor.authorWeisfeld-Adams, James D
dc.contributor.authorKožich, Viktor
dc.contributor.authorBlom, Henk
dc.contributor.authorBaumgartner, Matthias R
dc.contributor.authorDionisi-Vici, Carlo
dc.date.accessioned2017-11-10T12:24:21Z
dc.date.available2017-11-10T12:24:21Z
dc.date.issued2017-01
dc.description.abstractBackground: 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.pt_PT
dc.identifier.doi10.1007/s10545-016-9991-4pt_PT
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/10400.18/4826
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Verlag (Germany) /Society for the Study of Inborn Errors of Metabolismpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs10545-016-9991-4pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectRemethylation Disorderspt_PT
dc.subjectCblCpt_PT
dc.subjectGuidelinespt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage48pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage21pt_PT
oaire.citation.titleJournal of Inherited Metabolic Diseasept_PT
oaire.citation.volume40pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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