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Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: a national prospective multi-centre study

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl-CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy,...

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Main Authors: Märtner, E.M. Charlotte (Author) , Maier, Esther M. (Author) , Mengler, Katharina (Author) , Thimm, Eva (Author) , Schiergens, Katharina A. (Author) , Marquardt, Thorsten (Author) , Santer, René (Author) , Weinhold, Natalie (Author) , Marquardt, Iris (Author) , Das, Anibh M. (Author) , Freisinger, Peter (Author) , Grünert, Sarah C. (Author) , Vossbeck, Judith (Author) , Steinfeld, Robert (Author) , Baumgartner, Matthias R. (Author) , Beblo, Skadi (Author) , Dieckmann, Andrea (Author) , Näke, Andrea (Author) , Lindner, Martin (Author) , Heringer-Seifert, Jana (Author) , Lenz, Dominic (Author) , Hoffmann, Georg F. (Author) , Mühlhausen, Chris (Author) , Ensenauer, Regina (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Boy, Nikolas (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Journal of inherited metabolic disease
Year: 2021, Volume: 44, Issue: 3, Pages: 629-638
ISSN:1573-2665
DOI:10.1002/jimd.12335
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12335
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12335
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Author Notes:E.M. Charlotte Märtner, Esther M. Maier, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thorsten Marquardt, René Santer, Natalie Weinhold, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Judith Vossbeck, Robert Steinfeld, Matthias R. Baumgartner, Skadi Beblo, Andrea Dieckmann, Andrea Näke, Martin Lindner, Jana Heringer-Seifert, Dominic Lenz, Georg F. Hoffmann, Chris Mühlhausen, Regina Ensenauer, Sven F. Garbade, Stefan Kölker, Nikolas Boy
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Summary:Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl-CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long-term outcome. This national prospective, observational, multi-centre study included 79 patients identified by NBS and investigated effects of interventional and non-interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non-adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS −1.07; P = .023) and body length (mean SDS −1.34; P = −.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS −0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS −0.68; P = .016). In GA1, recommended long-term treatment is effective and allows for normal anthropometric long-term development up to adolescence, with gender- and excreter type-specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.
Item Description:First published: 03 December 2020
Gesehen am 03.12.2021
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.12335

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