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

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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Bibliographic Details
Main Authors: Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:JIMD Reports
Subjects:
2‐hydroxyglutaric acid
3‐hydroxyglutaric acid
gas chromatography–tandem mass spectrometry
glutaric acid
glutaric acidemia type 1
glutaric aciduria type 1
Online Access:https://doi.org/10.1002/jmd2.12447
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https://doi.org/10.1002/jmd2.12447

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