Home > Publications Database > Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. > print

001     154262
005     20240612104613.0
024 7 _ |a 10.1002/jimd.12323
|2 doi
024 7 _ |a pmid:33089527
|2 pmid
024 7 _ |a 0141-8955
|2 ISSN
024 7 _ |a 1573-2665
|2 ISSN
024 7 _ |a altmetric:92943222
|2 altmetric
037 _ _ |a DZNE-2021-00116
041 _ _ |a English
100 1 _ |a Marelli, Cecilia
|0 0000-0002-9543-6311
|b 0
245 _ _ |a Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
260 _ _ |c 2021
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1718181956_28347
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
500 _ _ |a ISSN 1573-2665 not unique: **3 hits**.
520 _ _ |a 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%), gait disorders (86%), epilepsy (71%), psychiatric symptoms (57%), polyneuropathy (43%), and visual deficit (43%). Mean diagnostic delay was 14 years. Vascular events were observed in 28% and obesity in 36% of the patients. One patient remained asymptomatic at the age of 55 years. Upon treatment, median total homocysteine decreased (from 183 μmol/L, range 69-266, to 90 μmol/L, range 20-142) and symptoms improved (n = 9) or stabilized (n = 4). Missense pathogenic variants in the C-terminal regulatory domain of the protein were over-represented compared to early-onset cases. Residual MTHFR enzymatic activity in skin fibroblasts (n = 4) was rather high (17%-58%). This series of patients with late-onset MTHFR deficiency underlines the still unmet need of a prompt diagnosis of this treatable disease.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
|0 G:(DE-HGF)POF3-344
|c POF3-344
|f POF III
|x 0
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
|0 G:(DE-HGF)POF4-353
|c POF4-353
|f POF IV
|x 1
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a MTHFR deficiency
|2 Other
650 _ 7 |a adult
|2 Other
650 _ 7 |a inherited metabolic disease
|2 Other
650 _ 7 |a late-onset
|2 Other
650 _ 7 |a neurology
|2 Other
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Age of Onset
|2 MeSH
650 _ 2 |a Child
|2 MeSH
650 _ 2 |a Delayed Diagnosis
|2 MeSH
650 _ 2 |a Epilepsy: diagnosis
|2 MeSH
650 _ 2 |a Epilepsy: pathology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Homocystinuria: diagnosis
|2 MeSH
650 _ 2 |a Homocystinuria: pathology
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Intellectual Disability: diagnosis
|2 MeSH
650 _ 2 |a Intellectual Disability: pathology
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Methylenetetrahydrofolate Reductase (NADPH2): deficiency
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Muscle Spasticity: diagnosis
|2 MeSH
650 _ 2 |a Muscle Spasticity: pathology
|2 MeSH
650 _ 2 |a Psychotic Disorders: diagnosis
|2 MeSH
650 _ 2 |a Psychotic Disorders: pathology
|2 MeSH
650 _ 2 |a Retrospective Studies
|2 MeSH
650 _ 2 |a Seizures: diagnosis
|2 MeSH
650 _ 2 |a Seizures: pathology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
700 1 _ |a Lavigne, Christian
|b 1
700 1 _ |a Stepien, Karolina M
|b 2
700 1 _ |a Janssen, Mirian C H
|b 3
700 1 _ |a Feillet, Francois
|b 4
700 1 _ |a Kožich, Viktor
|b 5
700 1 _ |a Jesina, Pavel
|b 6
700 1 _ |a Schule, Rebecca
|0 P:(DE-2719)2812018
|b 7
700 1 _ |a Kessler, Christoph
|0 P:(DE-2719)9000957
|b 8
700 1 _ |a Redonnet-Vernhet, Isabelle
|b 9
700 1 _ |a Regnier, Adeline
|b 10
700 1 _ |a Burda, Patricie
|b 11
700 1 _ |a Baumgartner, Matthias
|b 12
700 1 _ |a Benoist, Jean-Francois
|b 13
700 1 _ |a Huemer, Martina
|b 14
700 1 _ |a Mochel, Fanny
|b 15
700 1 _ |a Consortium, E-HOD
|0 P:(DE-HGF)0
|b 16
|e Collaboration Author
773 _ _ |a 10.1002/jimd.12323
|g p. jimd.12323
|0 PERI:(DE-600)2006875-X
|n 3
|p 777 - 786
|t Journal of Inherited Metabolic Disease
|v 44
|y 2021
|x 1573-2665
856 4 _ |u https://onlinelibrary.wiley.com/doi/10.1002/jimd.12323
909 C O |p VDB
|o oai:pub.dzne.de:154262
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 7
|6 P:(DE-2719)2812018
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 8
|6 P:(DE-2719)9000957
913 1 _ |a DE-HGF
|b Gesundheit
|l Erkrankungen des Nervensystems
|1 G:(DE-HGF)POF3-340
|0 G:(DE-HGF)POF3-344
|3 G:(DE-HGF)POF3
|2 G:(DE-HGF)POF3-300
|4 G:(DE-HGF)POF
|v Clinical and Health Care Research
|x 0
913 1 _ |a DE-HGF
|b Gesundheit
|l Neurodegenerative Diseases
|1 G:(DE-HGF)POF4-350
|0 G:(DE-HGF)POF4-353
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Clinical and Health Care Research
|x 1
913 2 _ |a DE-HGF
|b Programmungebundene Forschung
|l ohne Programm
|1 G:(DE-HGF)POF4-890
|0 G:(DE-HGF)POF4-899
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-800
|4 G:(DE-HGF)POF
|v ohne Topic
|x 0
914 1 _ |y 2021
915 _ _ |a DEAL Wiley
|0 StatID:(DE-HGF)3001
|2 StatID
|d 2021-01-26
|w ger
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2021-01-26
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2021-01-26
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2021-01-26
915 _ _ |a Nationallizenz
|0 StatID:(DE-HGF)0420
|2 StatID
|d 2022-11-23
|w ger
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2022-11-23
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2022-11-23
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2022-11-23
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2022-11-23
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2022-11-23
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
|d 2022-11-23
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b J INHERIT METAB DIS : 2021
|d 2022-11-23
915 _ _ |a IF < 5
|0 StatID:(DE-HGF)9900
|2 StatID
|d 2022-11-23
920 1 _ |0 I:(DE-2719)5000024
|k AG Maetzler
|l Functional Neurogeriatrics
|x 0
920 1 _ |0 I:(DE-2719)6000018
|k Tübingen common
|l Tübingen common
|x 1
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-2719)5000024
980 _ _ |a I:(DE-2719)6000018
980 _ _ |a UNRESTRICTED

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21