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.
Download full text files
CC BY 4.0
Additional Services
Statistics
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Jörn Oliver Sass, Malkanthi Fernando, Sidney Behringer |
| Parent Title (English): | Journal of Inborn Errors of Metabolism and Screening |
| Volume: | 6 |
| First Page: | 1 |
| Last Page: | 4 |
| ISSN: | 2326-4098 |
| URN: | urn:nbn:de:hbz:1044-opus-40285 |
| DOI: | https://doi.org/10.1177/2326409818797361 |
| Publisher: | Sage |
| Publishing Institution: | Hochschule Bonn-Rhein-Sieg |
| Date of first publication: | 2018/09/11 |
| Copyright: | © The Author(s) 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 License. |
| Funding: | 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”). |
| Keywords: | enzyme activity; fatty acid metabolism; ketogenesis; ketone body synthesis; leucine degradation; organic acid analysis; organic aciduria |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Projects: | KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016) |
| Dewey Decimal Classification (DDC): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
| Entry in this database: | 2018/09/19 |
| Licence (German): |  Creative Commons - CC BY - Namensnennung 4.0 International |
