Hypermethioninemia in Campania: Results from 10 years of newborn screening.
AdoCbl, 5′-deoxyadenosylcobalamin NBS
CBS deficiency
CBS, cystathionine β-synthase
Cbl, cobalamin
DBS, dried blood spot samples
Hypermethioninemia
MAT I/III deficiency
MAT I/III, methionine adenosyltransferase type I and III
NBS, Newborn screening
Newborn screening
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
10
09
2019
accepted:
10
09
2019
entrez:
24
10
2019
pubmed:
24
10
2019
medline:
24
10
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31641591
doi: 10.1016/j.ymgmr.2019.100520
pii: S2214-4269(19)30159-4
pii: 100520
pmc: PMC6796781
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100520Informations de copyright
© 2019 The Authors.
Déclaration de conflit d'intérêts
All the authors declare that they have no conflict of interest.
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