Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
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 coun...
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| Main Authors: | , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
17 October 2013
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| In: |
Orphanet journal of rare diseases
Year: 2013, Volume: 8, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-8-167 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1172-8-167
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| Author Notes: | Johannes Pfeil, Stefan Listl, Georg F. Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard |
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| 520 | |a 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. | ||
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