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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri, H. Blom, F. Gleich, S. Kölker, V. Kožich, AA. Morris, B. Seifert, DS. Froese, MR. Baumgartner, C. Dionisi-Vici, EHOD consortium, CA. Martin, M. Baethmann, D. Ballhausen, J. Blasco-Alonso, N. Boy,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
30773687
DOI
10.1002/jimd.12041
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- homocystinurie metabolismus MeSH
- kojenec MeSH
- kyselina methylmalonová moč MeSH
- lidé MeSH
- methylentetrahydrofolátreduktasa (NADPH2) nedostatek metabolismus MeSH
- metylace MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- progrese nemoci MeSH
- průřezové studie MeSH
- psychotické poruchy metabolismus MeSH
- registrace MeSH
- retrospektivní studie MeSH
- svalová spasticita metabolismus MeSH
- těhotenství MeSH
- věk při počátku nemoci MeSH
- vitamin B 12 metabolismus MeSH
- vrozené poruchy metabolismu aminokyselin diagnóza terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.
Center for Molecular Diseases University Hospital Lausanne Lausanne Switzerland
Centre de Référence des Maladies Héréditaires du Métabolisme CHU La Timone Enfants Marseille France
Centro Academico de Medicina de Lisboa Lisbon Portugal
Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery London UK
Children's National Rare Disease Institute Genetics and Metabolism Washington DC USA
Department of Internal Medicine Radboud University Medical Center Nijmegen The Netherlands
Department of Internal Medicine VU Medical Center Amsterdam The Netherlands
Department of Pediatrics and Adolescent Medicine Medical University Vienna Vienna Austria
Division of Gastroenterology and Nutrition University Children's Hospital Niño Jesús Madrid Spain
Division of Gastroenterology Hepatology and Nutrition Sant Joan de Déu Hospital Barcelona Spain
Division of Metabolism Bambino Gesù Children's Hospital Rome Italy
Evelina London Children's Hospital London UK
Hôpital Jeanne de Flandre Lille France
Hospital Infantil Miguel Servet Zaragoza Spain
Hospital Universitario Río Hortega Valladolid Spain
Hospital Universitario Virgen de la Arrixaca El Palmar Spain
Hospital Universitario Virgen del Rocío Sevilla Spain
Institute for Child HealthGreat Ormond Street Hospital University College London London UK
Médecine Interne et Maladies Vasculaires Centre Hospitalier Universitaire Angers Angers France
Metabolic Neuropediatric Unit University Hospital Son Espases Palma de Mallorca Spain
Nutritional Support Unit University Hospital Vall d'Hebron Barcelona Spain
Reference Center for Inherited Metabolic Diseases Centro Hospitalar do Porto Porto Portugal
Salford Royal NHS Foundation Trust Salford UK
Sección de Gastroenterología y Nutrición Pediátrica Hospital Regional de Málaga Málaga Spain
Unidad de Nutrición y Metabolopatías Hospital Universitario La Fe Valencia Spain
Universitary Hospital 12 Octubre Madrid Spain
University Department of Pediatrics Giannina Gaslini Institute Genoa Italy
Citace poskytuje Crossref.org
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