Newborn screening by tandem mass spectrometry for glutaric aciduria type 1

• Verfasst von: Pfeil, Johannes [VerfasserIn]
• Verfasst von: Listl, Stefan [VerfasserIn]
• Verfasst von: Hoffmann, Georg F. [VerfasserIn]
• Verfasst von: Kölker, Stefan [VerfasserIn]
• Verfasst von: Lindner, Martin [VerfasserIn]
• Verfasst von: Burgard, Peter [VerfasserIn]
• Titel: Newborn screening by tandem mass spectrometry for glutaric aciduria type 1
• Titelzusatz: a cost-effectiveness analysis
• Verf.angabe: Johannes Pfeil, Stefan Listl, Georg F. Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard
• E-Jahr: 2013
• Jahr: 17 October 2013
• Umfang: 11 S.
• Fussnoten: Gesehen am 20.01.2022
• Titel Quelle: Enthalten in: Orphanet journal of rare diseases
• Ort Quelle: London : BioMed Central, 2006
• Jahr Quelle: 2013
• Band/Heft Quelle: 8(2013), Artikel-ID 167, Seite 1-11
• ISSN Quelle: 1750-1172
• DOI: doi:10.1186/1750-1172-8-167
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Cost-effectiveness
• Sach-SW: Glutaric aciduria type 1
• Sach-SW: Newborn screening GA-I
• K10plus-PPN: 1786603349

Abstract

Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel.