Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3HGA) in body fluids is the biochemical hallmark of type 1 glutaric aciduria (GA1), a disorder characterized by acute striatal degeneration and a subsequent dystonia. To date, methods for quantification of 3HGA are mainly based on stable...
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| Hauptverfasser: | , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2011
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| In: |
Journal of inherited metabolic disease
Year: 2011, Jahrgang: 34, Heft: 1, Pages: 173-180 |
| ISSN: | 1573-2665 |
| DOI: | 10.1007/s10545-010-9223-2 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10545-010-9223-2 Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1007/s10545-010-9223-2 
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| Verfasserangaben: | Osama Y. Al-Dirbashi, Stefan Kölker, Dione Ng, Lawrence Fisher, Tony Rupar, Nathalie Lepage, Mohamed S. Rashed, Tomofumi Santa, Stephen I. Goodman, Michael T. Geraghty, Johannes Zschocke, Ernst Christensen, Georg F. Hoffmann, Pranesh Chakraborty |
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| 245 | 1 | 0 | |a Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry |c Osama Y. Al-Dirbashi, Stefan Kölker, Dione Ng, Lawrence Fisher, Tony Rupar, Nathalie Lepage, Mohamed S. Rashed, Tomofumi Santa, Stephen I. Goodman, Michael T. Geraghty, Johannes Zschocke, Ernst Christensen, Georg F. Hoffmann, Pranesh Chakraborty |
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| 500 | |a First published: 27 October 2010 | ||
| 500 | |a Gesehen am 28.02.2022 | ||
| 520 | |a Accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3HGA) in body fluids is the biochemical hallmark of type 1 glutaric aciduria (GA1), a disorder characterized by acute striatal degeneration and a subsequent dystonia. To date, methods for quantification of 3HGA are mainly based on stable isotope dilution gas chromatography mass spectrometry (GC-MS) and require extensive sample preparation. Here we describe a simple liquid chromatography tandem MS (LC-MS/MS) method to quantify this important metabolite in dried urine spots (DUS). This method is based on derivatization with 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole (DAABD-AE). Derivatization was adopted to improve the chromatographic and mass spectrometric properties of the studied analytes. Derivatization was performed directly on a 3.2-mm disc of DUS as a sample without extraction. Sample mixture was heated at 60°C for 45 min, and 5 μl of the reaction solution was analyzed by LC-MS/MS. Reference ranges obtained were in excellent agreement with the literature. The method was applied retrospectively for the analysis of DUS samples from established low- and high-excreter GA1 patients as well as controls (n = 100). Comparison of results obtained versus those obtained by GC-MS was satisfactory (n = 14). In populations with a high risk of GA1, this approach will be useful as a primary screening method for high- or low-excreter variants. In these populations, however, DUS analysis should not be implemented before completing a parallel comparative study with the standard screening method (i.e., molecular testing). In addition, follow-up DUS GA and 3HGA testing of babies with elevated dried blood spot C5DC acylcarnitines will be useful as a first-tier diagnostic test, thus reducing the number of cases requiring enzymatic and molecular analyses to establish or refute the diagnosis of GA1. | ||
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