Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC,cblD, cblE,cblF, cblG,cblJ and MTHFR deficiency |
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| Authors: | " target="_blank">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 Ko?ich Henk Blom Matthias R Baumgartner Carlo Dionisi-Vici |
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| Institution: | 1.Division of Metabolism and Children’s Research Center,University Childrens’ Hospital Zürich,Zurich,Switzerland;2.radiz – Rare Disease Initiative Zürich, Clinical Research Priority Program,University of Zürich,Zurich,Switzerland;3.Department of Paediatrics,Landeskrankenhaus Bregenz,Bregenz,Austria;4.Division of Metabolism,Bambino Gesù Children’s Research Hospital,Rome,Italy;5.Willink Biochemical Genetics Unit, Saint Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust,Manchester Academic Health Science Centre,Manchester,UK;6.Reference Center for Inborn Errors of Metabolism,Robert Debré University Hospital, APHP,Paris,France;7.Inserm U1141,Robert Debré Hospital,Paris,France;8.Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré,Paris,France;9.Metabolic Unit,Centro Hospitalar do Porto,Porto,Portugal;10.Biochimie, faculté de pharmacie,Université Paris Sud,Paris,France;11.Division of Inherited Metabolic Diseases, Department of Pediatrics,University Hospital Padova,Padova,Italy;12.University Dept of Pediatrics,Giannina Gaslini Institute,Genoa,Italy;13.Congenital Metabolic Diseases Unit,Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBER,Compostela,Spain;14.Department of Neurology, Neurometabolism Unit, and CIBERER (ISCIII),Hospital Sant Joan de Deu,Barcelona,Spain;15.Department of Experimental and Clinical Biomedical Sciences,University of Florence,Firence,Italy;16.Metabolic and Newborn Screening Clinical Unit, Department of Neurosciences,A. Meyer Children’s University Hospital,Florence,Italy;17.Newborn Screening, Metabolism & Genetics Unit,National Institute of Health,Porto,Portugal;18.Section of Clinical Genetics and Metabolism, Department of Pediatrics,University of Colorado School of Medicine,Aurora,USA;19.Inherited Metabolic Diseases Clinic,Childrens Hospital Colorado,Aurora,USA;20.Institute of Inherited Metabolic Disorders,Charles University-First Faculty of Medicine and General University Hospital,Prague,Czech Republic;21.Laboratory of Clinical Biochemistry and Metabolism,Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg,Freiburg,Germany |
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| Abstract: | BackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.Data sourcesReview, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.Key recommendationsWe 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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