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Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-MethylglutarylCoenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
Sass, Jörn Oliver; Fernando, Malkanthi; Behringer, Sidney.
Affiliation
  • Sass, Jörn Oliver; Bonn-Rhein-Sieg University of Applied Sciences. IFGA. Department of Natural Sciences. Rheinbach. DE
  • Fernando, Malkanthi; Medical Center-University of Freiburg. Department of General Pediatrics, Faculty of Medicine. Adolescent Medicine and Neonatology. Freiburg. DE
  • Behringer, Sidney; Medical Center-University of Freiburg. Department of General Pediatrics, Faculty of Medicine. Adolescent Medicine and Neonatology. Freiburg. DE
J. inborn errors metab. screen ; 6: e180012, 2018. graf
Article in En | LILACS-Express | LILACS | ID: biblio-1090970
Responsible library: BR1.1
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.
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Full text: 1 Index: LILACS Language: En Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2018 Type: Article / Project document
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Full text: 1 Index: LILACS Language: En Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2018 Type: Article / Project document