TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, Jörn Oliver
A1  - Fernando, Malkanthi
A1  - Behringer, Sidney
T1  - Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
JF  - Journal of Inborn Errors of Metabolism and Screening
N2  - 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.
KW  - ketogenesis
KW  - ketone body synthesis
KW  - leucine degradation
KW  - fatty acid metabolism
KW  - organic aciduria
KW  - enzyme activity
KW  - organic acid analysis
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-40285
SN  - 2326-4098
SS  - 2326-4098
U6  - https://doi.org/10.1177/2326409818797361
DO  - https://doi.org/10.1177/2326409818797361
VL  - 6
SP  - 1
EP  - 4
PB  - Sage
ER  -