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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended therapy are thought to improve the neurological outcome.

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Bibliographic Details
Main Authors: Boy, Nikolas (Author) , Mengler, Katharina (Author) , Heringer-Seifert, Jana (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Genetics in medicine
Year: 2021, Volume: 23, Issue: 1, Pages: 13-21
ISSN:1530-0366
DOI:10.1038/s41436-020-00971-4
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41436-020-00971-4
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41436-020-00971-4
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Author Notes:Nikolas Boy, MD, Katharina Mengler, MD, Jana Heringer-Seifert, MD, Georg F. Hoffmann, MD, Sven F. Garbade, PhD and Stefan Kölker, MD
Description
Summary:Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended therapy are thought to improve the neurological outcome.
Item Description:Published: 28 September 2020
Gesehen am 27.10.2021
Physical Description:Online Resource
ISSN:1530-0366
DOI:10.1038/s41436-020-00971-4

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