Enantioselective analysis of ketone bodies in patients with β-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting
| Autor: | Elisa Prado, Thomas Beck, Hans Böhles, Frank Podebrad, Adrian C. Sewell, Willy Lehnert, Armin Mosandl, Martin Heil |
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| Rok vydání: | 2000 |
| Předmět: |
Fatty Acid Desaturases
Male Vomiting Stereochemistry Metabolite Ketone Bodies Acyl-CoA Dehydrogenase Gas Chromatography-Mass Spectrometry chemistry.chemical_compound hemic and lymphatic diseases Ketogenesis Humans Child chemistry.chemical_classification Chromatography biology Acyl CoA dehydrogenase General Chemistry Metabolism Acetyl-CoA C-Acyltransferase Metabolic pathway Enzyme chemistry Biochemistry Ketone bodies biology.protein Isoleucine Oxidation-Reduction Metabolism Inborn Errors |
| Zdroj: | Journal of Chromatography B: Biomedical Sciences and Applications. 739:313-324 |
| ISSN: | 0378-4347 |
| Popis: | Enantioselective multidimensional gas chromatography-mass spectrometry (enantio-MDGC-MS) is a valuable tool for the differentiation of enantiomers from complex matrices when present in trace amounts. The separation of chiral compounds provides further information on the diagnosis of diseases, and on normal and abnormal biochemical pathways. The formation of the normal urinary metabolite 3-hydroxy-2-methylbutanoic acid (HMBA), excreted in abnormally high amounts in beta-ketothiolase deficiency, is not absolutely clarified. Metabolic pathways involving this metabolite are isoleucine catabolism, as well as presumably beta-oxidation of fatty acids and ketogenesis. The latter two pathways are distinguishable in their enantioselectivity. Enantioselective analysis gives further information on interfering metabolic pathways and the selectivity of the enzyme(s) forming HMBA. Different ratios of the stereoisomers of HMBA in control urine samples and patients with beta-ketothiolase deficiency were detected. Analogous to HMBA urinary 3-hydroxybutanoic acid (HBA) was investigated in several diseases. The formation of HBA and HMBA is expected to result from the same or similar metabolic pathways. Differences in the enantiomeric ratio of HMBA may originate from the enantioselectivity of different enzyme systems. |
| Databáze: | OpenAIRE |
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