Hypermethioninemia in Campania: Results from 10 years of newborn screening

Abstract

In 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 incidence of CBS and MAT deficiency.

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

“…The incidence of CBSD in Emilia-Romagna (1 per 118,000 live births) is not far from the data of the Campania region, which, at the time of publication of the data, screened on the basis of hypermethioninemia alone without 2TT [15].…”

“…The results from ENS in Campania, a region in the south of Italy, allowed us to estimate an incidence of 1:77,000 [15].…”

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism: Comprehensive Bibliometric Analysis

“…Currently, neonatal screening programs for MS/MS are actively implemented in European countries: Germany [108,109], Slovenia [25,34,110], Italy [111,112], Spain [113], as well as in China [46,47,[114][115][116][117][118][119][120] (Figure 4A,B). The outcome of these programs is to estimate the incidence of various IEMs in newborns and the geographic distribution of these disorders.…”

“…A total of 1,655 keywords are analyzed in this study. The top 20 author keywords and the top 20 additional keywords with the highest frequency of matches are displayed in Figure 14A-D Among the authors' keywords, "newborn screening" (150) has the highest frequency of occurrence, followed by "inborn errors of metabolism" (116) and "tandem mass spectrometry" (111). Among the additional keywords, "tandem mass spectrometry" (241) has the highest frequency of occurrence, followed by "inborn errors" (214) and "metabolism" (175).…”