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
Artigo
em Inglês
|
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2018
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Alemanha
Instituição/País de afiliação:
Bonn-Rhein-Sieg University of Applied Sciences/DE
/
Medical Center-University of Freiburg/DE
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