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Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
M. Yverneau, S. Leroux, A. Imbard, F. Gleich, A. Arion, C. Moreau, MC. Nassogne, M. Szymanowski, M. Tardieu, G. Touati, M. Bueno, KA. Chapman, YH. Chien, M. Huemer, P. Ješina, MCH. Janssen, S. Kölker, V. Kožich, C. Lavigne, AM. Lund, F. Mochel,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
35460084
DOI
10.1002/jimd.12504
Knihovny.cz E-zdroje
- MeSH
- homocystein MeSH
- homocystinurie * diagnóza farmakoterapie MeSH
- kohortové studie MeSH
- lidé MeSH
- methylentetrahydrofolátreduktasa (NADPH2) nedostatek genetika MeSH
- novorozenec MeSH
- psychotické poruchy MeSH
- retrospektivní studie MeSH
- svalová spasticita diagnóza MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-onset patients mostly exhibit a life-threatening acute neurologic deterioration. Furthermore, data on early-onset patients' long-term outcomes are scarce. The aims of this study were (1) to study and describe the clinical and laboratory parameters of early-onset MTHFR-deficient patients (i.e., ≤3 months of age) and (2) to identify predictive factors for severe neurodevelopmental outcomes in a cohort with early and late onset MTHFR-deficient patients. To this end, we conducted a retrospective, multicentric, international cohort study on 72 patients with MTHFR deficiency from 32 international metabolic centres. Characteristics of the 32 patients with early-onset MTHFR deficiency were described at time of diagnosis and at the last follow-up visit. Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of patients with early and non-early-onset MTHFR deficiency. The majority of early-onset MTHFR-deficient patients (n = 32) exhibited neurologic symptoms (76%) and feeding difficulties (70%) at time of diagnosis. At the last follow-up visit (median follow-up time of 8.1 years), 76% of treated early-onset patients (n = 29) exhibited a severe neurodevelopmental outcome. Among the whole study population of 64 patients, pre-symptomatic diagnosis was independently associated with a significantly better neurodevelopmental outcome (adjusted OR 0.004, [0.002-0.232]; p = 0.003). This study provides evidence for benefits of pre-symptomatic diagnosis and appropriate therapeutic management, highlighting the need for systematic newborn screening for MTHFR deficiency and pre-symptomatic treatment that may improve outcome.
Alder Hey Children's Hospital Liverpool UK
Biochemistry Laboratory Rennes Hospital Rennes France
Biochemistry Laboratory Robert Debré Hospital APHP Paris France
Clínica Comfamiliar Pereira Colombia
Department of Child and Adolescent Medicine Rennes Hospital Rennes France
Department of Genetics AP HP Pitié Salpêtrière University Hospital Paris France
Department of Internal Medicine Angers University Hospital Angers France
Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands
Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria
Department of Pediatrics Caen Hospital Caen France
Department of Pediatrics Estaing Hospital Clermont Ferrand France
Department of Pediatrics Tours Hospital Tours France
H U Ntra Sra de la Candelaria Santa Cruz de Tenerife Spain
Hospital Universitario Virgen del Rocío Sevilla Spain
Inserm UMR_S1163 Institut Imagine Paris France
LYPSIS Université Paris Saclay Châtenay Malabry France
Pediatric Neurology Unit Cliniques Universitaires Saint Luc UCLouvain Brussels Belgium
Citace poskytuje Crossref.org
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