Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-MethylglutarylCoenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
J. inborn errors metab. screen
;
6: e180012, 2018. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090970
ABSTRACT
Abstract 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.
Full text:
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Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2018
Type:
Article
/
Project document
Affiliation country:
Germany
Institution/Affiliation country:
Bonn-Rhein-Sieg University of Applied Sciences/DE
/
Medical Center-University of Freiburg/DE
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