Hypermethioninemia in Campania: Results from 10 years of newborn screening

Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita RuoppoloAbstractIn the last years tandem mass spectrometry (MS/MS) has become a leading technology used for neonatal screening purposes. Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this parameter allows the identification of infant affected by homocystinuria (cystathionine β-synthase, CBS, deficiency) but can also lead, as side effect, to identify cases of methionine adenosyltransferase (MAT) type I/III deficiency.We started an expanded newborn screening for inborn errors of metabolism in Campania region in 2007. Here we report our ten years experience on expanded newborn screening in identifying patients affected by hypermethioninemia. During this period we screened approximately 77,000 infants and identified two cases: one case of classical homocystinuria and one patient affected by defect of MAT I/III. In this paper we describe these patients and their biochemical follow-up and review the literature concerning worldwide newborn screening reports on ...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research