ArticleGenes2023
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 3 citations in OpenAlex.
- Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms.Nutrients · 2025Trial
- Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Personalized nutrition for healthy aging: precision diets based on genomic, metabolic, and microbiome profiles.Frontiers in nutrition · 2026Review
- MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.Genes · 2025Review
- Co-Occurring Methylenetetrahydrofolate Reductase (Brain sciences · 2024Article
- MTHFR rs1801131 GG Genotype Combined with Serum LDH Level Predicts Lung Adenocarcinoma Susceptibility and Poor Prognosis in Guangxi Zhuang Population.Cancer control : journal of the Moffitt Cancer CenterArticle
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundthe deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes.
methodswe report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency.
resultsmolecular analysis of the
conclusionsour results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the
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