2026-05-17T01:18:36Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/164352024-09-21T09:43:01Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Barretta, Ferdinando author Uomo, Fabiana author Fecarotta, Simona author Albano, Lucia author Crisci, Daniela author Verde, Alessandra author Fisco, Maria Grazia author Gallo, Giovanna author Dottore Stagna, Daniela author Pricolo, Maria Rosaria author Alagia, Marianna author Terrone, Gaetano author Rossi, Alessandro author Parenti, Giancarlo author Ruoppolo, Margherita author Mazzaccara, Cristina author Frisso, Giulia author 2023-04-26 BACKGROUND the 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. METHODS we 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. RESULTS molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy. CONCLUSIONS our 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 MTHFR gene. Genes (Basel). 2023 Apr 26;14(5):980. 10.3390/genes14050980 2073-4425 Genes 37239340 http://hdl.handle.net/20.500.12105/16435 Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.