Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Por:
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR and Dionisi-Vici C
Publicada:
1 ene 2017
Ahead of Print:
30 nov 2016
Resumen:
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.
Filiaciones:
Huemer M:
Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zurich, Switzerland
Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program, University of Zurich, Zurich, Switzerland
Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria
Diodato D:
Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy
Schwahn B:
Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK
Schiff M:
Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France
Inserm U1141, Robert Debré Hospital, Paris, France
Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France
Bandeira A:
Metabolic Unit, Centro Hospitalar do Porto, Porto, Portugal
Benoist JF:
Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France
Inserm U1141, Robert Debré Hospital, Paris, France
Biochimie, faculté de pharmacie, Université Paris Sud, Paris, France
Burlina A:
Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital Padova, Padova, Italy
Cerone R:
University Dept of Pediatrics, Giannina Gaslini Institute, Genoa, Italy
Couce ML:
Congenital Metabolic Diseases Unit, Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBER, Compostela, Spain
Garcia-Cazorla A:
Department of Neurology, Neurometabolism Unit, and CIBERER (ISCIII), Hospital Sant Joan de Deu, Barcelona, Spain
la Marca G:
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Firence, Italy
Pasquini E:
Metabolic and Newborn Screening Clinical Unit, Department of Neurosciences, A. Meyer Children's University Hospital, Florence, Italy
Vilarinho L:
Newborn Screening, Metabolism & Genetics Unit, National Institute of Health, Porto, Portugal
Weisfeld-Adams JD:
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA
Inherited Metabolic Diseases Clinic, Childrens Hospital Colorado, Aurora, CO, USA
Kožich V:
Institute of Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic
Blom H:
Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany
Baumgartner MR:
Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zurich, Switzerland.
radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zurich, Switzerland.
Dionisi-Vici C:
Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
Green Published, hybrid, Green Submitted
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