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Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids

  • 3-Hydroxy-3-methylglutaryl-coenzyme A lyase (HMGCL, HMGCL) deficiency is a rare inborn error of ketogenesis. Even if the ketogenic enzyme is fully disrupted, an elevated signal for the ketone body acetoacetic acid is a frequent observation in the analysis of urinary organic acids, at least if derivatization is performed by methylation. We provide an explanation for this phenomenon and trace it back to degradation of the derivatized 3-hydroxy-3-methylglutaric acid and high temperature of the injector of the gas chromatograph.

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Document Type:Article
Author:Jörn Oliver Sass, Malkanthi Fernando, Sidney Behringer
Parent Title (English):J Inborn Errors Metab Screen. (Journal of Inborn Errors of Metabolism and Screening)
First Page:1
Last Page:4
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2018/09/11
This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
Research of J. O. Sass in the ketone body field is supported by the program “FH Zeit für Forschung 2016” by the Ministry of Culture and Science of the German state of North Rhine-Westphalia (project 005-1703-0016, “KETOplus”).
Tag:Enzyme activity; Fatty acid metabolism; Ketone body synthesis; Leucine degradation; ketogenesis; organic acid analysis; organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2018/09/19
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International