Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

Abstract Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG). Some low excretors may exhibit only slight elevation of urinary 3‐HG, with normal urinary...

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Bibliografische Detailangaben

Hauptverfasser:	Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2024-11-01
Schriftenreihe:	JIMD Reports
Schlagworte:	2‐hydroxyglutaric acid 3‐hydroxyglutaric acid gas chromatography–tandem mass spectrometry glutaric acid glutaric acidemia type 1 glutaric aciduria type 1
Online-Zugang:	https://doi.org/10.1002/jmd2.12447
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