%0 Journal Article
%A Marelli, Cecilia
%A Lavigne, Christian
%A Stepien, Karolina M
%A Janssen, Mirian C H
%A Feillet, Francois
%A Kožich, Viktor
%A Jesina, Pavel
%A Schule, Rebecca
%A Kessler, Christoph
%A Redonnet-Vernhet, Isabelle
%A Regnier, Adeline
%A Burda, Patricie
%A Baumgartner, Matthias
%A Benoist, Jean-Francois
%A Huemer, Martina
%A Mochel, Fanny
%T Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
%J Journal of Inherited Metabolic Disease
%V 44
%N 3
%@ 1573-2665
%M DZNE-2021-00116
%P 777 - 786
%D 2021
%Z ISSN 1573-2665 not unique: **3 hits**.
%X 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR deficiency. The patients were identified through the European Network and Registry for Homocystinuria and Methylation Defects and the Adult group of the French Society for Inherited Metabolic Diseases; data were retrospectively colleted. To identify juvenile to adult-onset forms of the disease, we included patients with a diagnosis established after the age of 10 years. We included 14 patients (median age at diagnosis: 32 years; range: 11-54). At onset (median age: 20 years; range 9-38), they presented with walking difficulties (n = 8), cognitive decline (n = 3) and/or seizures (n = 3), sometimes associated with mild mental retardation (n = 6). During the disease course, symptoms were almost exclusively neurological with cognitive dysfunction (93
%K Adolescent
%K Adult
%K Age of Onset
%K Child
%K Delayed Diagnosis
%K Epilepsy: diagnosis
%K Epilepsy: pathology
%K Female
%K Homocystinuria: diagnosis
%K Homocystinuria: pathology
%K Humans
%K Intellectual Disability: diagnosis
%K Intellectual Disability: pathology
%K Male
%K Methylenetetrahydrofolate Reductase (NADPH2): deficiency
%K Middle Aged
%K Muscle Spasticity: diagnosis
%K Muscle Spasticity: pathology
%K Psychotic Disorders: diagnosis
%K Psychotic Disorders: pathology
%K Retrospective Studies
%K Seizures: diagnosis
%K Seizures: pathology
%K Young Adult
%K MTHFR deficiency (Other)
%K adult (Other)
%K inherited metabolic disease (Other)
%K late-onset (Other)
%K neurology (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33089527
%R 10.1002/jimd.12323
%U https://pub.dzne.de/record/154262