000154262 001__ 154262
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000154262 037__ $$aDZNE-2021-00116
000154262 041__ $$aEnglish
000154262 1001_ $$00000-0002-9543-6311$$aMarelli, Cecilia$$b0
000154262 245__ $$aClinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
000154262 260__ $$c2021
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000154262 520__ $$a5,10-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.
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000154262 650_7 $$2Other$$aMTHFR deficiency
000154262 650_7 $$2Other$$aadult
000154262 650_7 $$2Other$$ainherited metabolic disease
000154262 650_7 $$2Other$$alate-onset
000154262 650_7 $$2Other$$aneurology
000154262 650_2 $$2MeSH$$aAdolescent
000154262 650_2 $$2MeSH$$aAdult
000154262 650_2 $$2MeSH$$aAge of Onset
000154262 650_2 $$2MeSH$$aChild
000154262 650_2 $$2MeSH$$aDelayed Diagnosis
000154262 650_2 $$2MeSH$$aEpilepsy: diagnosis
000154262 650_2 $$2MeSH$$aEpilepsy: pathology
000154262 650_2 $$2MeSH$$aFemale
000154262 650_2 $$2MeSH$$aHomocystinuria: diagnosis
000154262 650_2 $$2MeSH$$aHomocystinuria: pathology
000154262 650_2 $$2MeSH$$aHumans
000154262 650_2 $$2MeSH$$aIntellectual Disability: diagnosis
000154262 650_2 $$2MeSH$$aIntellectual Disability: pathology
000154262 650_2 $$2MeSH$$aMale
000154262 650_2 $$2MeSH$$aMethylenetetrahydrofolate Reductase (NADPH2): deficiency
000154262 650_2 $$2MeSH$$aMiddle Aged
000154262 650_2 $$2MeSH$$aMuscle Spasticity: diagnosis
000154262 650_2 $$2MeSH$$aMuscle Spasticity: pathology
000154262 650_2 $$2MeSH$$aPsychotic Disorders: diagnosis
000154262 650_2 $$2MeSH$$aPsychotic Disorders: pathology
000154262 650_2 $$2MeSH$$aRetrospective Studies
000154262 650_2 $$2MeSH$$aSeizures: diagnosis
000154262 650_2 $$2MeSH$$aSeizures: pathology
000154262 650_2 $$2MeSH$$aYoung Adult
000154262 7001_ $$aLavigne, Christian$$b1
000154262 7001_ $$aStepien, Karolina M$$b2
000154262 7001_ $$aJanssen, Mirian C H$$b3
000154262 7001_ $$aFeillet, Francois$$b4
000154262 7001_ $$aKožich, Viktor$$b5
000154262 7001_ $$aJesina, Pavel$$b6
000154262 7001_ $$0P:(DE-2719)2812018$$aSchule, Rebecca$$b7
000154262 7001_ $$0P:(DE-2719)9000957$$aKessler, Christoph$$b8
000154262 7001_ $$aRedonnet-Vernhet, Isabelle$$b9
000154262 7001_ $$aRegnier, Adeline$$b10
000154262 7001_ $$aBurda, Patricie$$b11
000154262 7001_ $$aBaumgartner, Matthias$$b12
000154262 7001_ $$aBenoist, Jean-Francois$$b13
000154262 7001_ $$aHuemer, Martina$$b14
000154262 7001_ $$aMochel, Fanny$$b15
000154262 7001_ $$0P:(DE-HGF)0$$aConsortium, E-HOD$$b16$$eCollaboration Author
000154262 773__ $$0PERI:(DE-600)2006875-X$$a10.1002/jimd.12323$$gp. jimd.12323$$n3$$p777 - 786$$tJournal of Inherited Metabolic Disease$$v44$$x1573-2665$$y2021
000154262 8564_ $$uhttps://onlinelibrary.wiley.com/doi/10.1002/jimd.12323
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