Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

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 deriv...

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Main Authors: Jörn Oliver Sass Dr. rer. nat., Malkanthi Fernando Dr. rer. nat., Sidney Behringer B.Sc.
Format: Article
Language:English
Published: SciELO 2018-09-01
Series:Journal of Inborn Errors of Metabolism and Screening
Online Access:https://doi.org/10.1177/2326409818797361
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spelling doaj-56dcaa70f2634435a71c9df837a67bcb2020-11-25T01:29:17ZengSciELOJournal of Inborn Errors of Metabolism and Screening 2326-45942018-09-01610.1177/2326409818797361Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase DeficiencyJörn Oliver Sass Dr. rer. nat.0Malkanthi Fernando Dr. rer. nat.1Sidney Behringer B.Sc.2 Bonn-Rhein-Sieg University of Applied Sciences, IFGA & Department of Natural Sciences, Inborn Errors of Metabolism, Rheinbach, Germany Department of General Pediatrics, Faculty of Medicine, Adolescent Medicine and Neonatology, Medical Center–University of Freiburg, Freiburg, Germany Department of General Pediatrics, Faculty of Medicine, Adolescent Medicine and Neonatology, Medical Center–University of Freiburg, Freiburg, Germany3-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.https://doi.org/10.1177/2326409818797361
collection DOAJ
language English
format Article
sources DOAJ
author Jörn Oliver Sass Dr. rer. nat.
Malkanthi Fernando Dr. rer. nat.
Sidney Behringer B.Sc.
spellingShingle Jörn Oliver Sass Dr. rer. nat.
Malkanthi Fernando Dr. rer. nat.
Sidney Behringer B.Sc.
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
Journal of Inborn Errors of Metabolism and Screening
author_facet Jörn Oliver Sass Dr. rer. nat.
Malkanthi Fernando Dr. rer. nat.
Sidney Behringer B.Sc.
author_sort Jörn Oliver Sass Dr. rer. nat.
title Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
title_short Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
title_full Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
title_fullStr Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
title_full_unstemmed Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
title_sort mimicking ketonuria in the ketogenesis defect 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency
publisher SciELO
series Journal of Inborn Errors of Metabolism and Screening
issn 2326-4594
publishDate 2018-09-01
description 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.
url https://doi.org/10.1177/2326409818797361
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AT malkanthifernandodrrernat mimickingketonuriaintheketogenesisdefect3hydroxy3methylglutarylcoenzymealyasedeficiency
AT sidneybehringerbsc mimickingketonuriaintheketogenesisdefect3hydroxy3methylglutarylcoenzymealyasedeficiency
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