TY  - JOUR
AU  - Marelli, Cecilia
AU  - Lavigne, Christian
AU  - Stepien, Karolina M
AU  - Janssen, Mirian C H
AU  - Feillet, Francois
AU  - Kožich, Viktor
AU  - Jesina, Pavel
AU  - Schule, Rebecca
AU  - Kessler, Christoph
AU  - Redonnet-Vernhet, Isabelle
AU  - Regnier, Adeline
AU  - Burda, Patricie
AU  - Baumgartner, Matthias
AU  - Benoist, Jean-Francois
AU  - Huemer, Martina
AU  - Mochel, Fanny
TI  - Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
JO  - Journal of Inherited Metabolic Disease
VL  - 44
IS  - 3
SN  - 1573-2665
M1  - DZNE-2021-00116
SP  - 777 - 786
PY  - 2021
N1  - ISSN 1573-2665 not unique: **3 hits**.
AB  - 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
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Child
KW  - Delayed Diagnosis
KW  - Epilepsy: diagnosis
KW  - Epilepsy: pathology
KW  - Female
KW  - Homocystinuria: diagnosis
KW  - Homocystinuria: pathology
KW  - Humans
KW  - Intellectual Disability: diagnosis
KW  - Intellectual Disability: pathology
KW  - Male
KW  - Methylenetetrahydrofolate Reductase (NADPH2): deficiency
KW  - Middle Aged
KW  - Muscle Spasticity: diagnosis
KW  - Muscle Spasticity: pathology
KW  - Psychotic Disorders: diagnosis
KW  - Psychotic Disorders: pathology
KW  - Retrospective Studies
KW  - Seizures: diagnosis
KW  - Seizures: pathology
KW  - Young Adult
KW  - MTHFR deficiency (Other)
KW  - adult (Other)
KW  - inherited metabolic disease (Other)
KW  - late-onset (Other)
KW  - neurology (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33089527
DO  - DOI:10.1002/jimd.12323
UR  - https://pub.dzne.de/record/154262
ER  -