Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Huemer M Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zurich, Switzerland.
- 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.
- 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.
- 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.
- 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. matthias.baumgartner@kispi.uzh.ch.
- Dionisi-Vici C Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy. carlo.dionisivici@opbg.net.
- 2016-12-02
Published in:
- Journal of inherited metabolic disease. - 2017
Animals
Homocysteine
Humans
Methionine
Methylation
Methylenetetrahydrofolate Reductase (NADPH2)
Proto-Oncogene Proteins c-cbl
Vitamin B 12
English
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.
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.
- Language
-
- English
- Open access status
- hybrid
- Identifiers
-
- DOI 10.1007/s10545-016-9991-4
- PMID 27905001
- Persistent URL
- https://sonar.ch/global/documents/135527
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