Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the quantitative analysis of short and medium-chain a...
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| Outros Autores: | , , , , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2015
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10451/21411 |
| País: | Portugal |
| Oai: | oai:repositorio.ul.pt:10451/21411 |
| Resumo: | The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the quantitative analysis of short and medium-chain acylglycines as their bis(trifluoromethyl)benzyl (BTFMB) ester derivatives is described. The diagnostic usefulness of the method was demonstrated in nine patients with medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, and seven patients with multiple acyl-CoA dehydrogenation defect (MAD). The urinary acylglycine profiles in these patients were compared to those in controls (n = 19), children on a medium-chain triglyceride (MCT) supplemented diet (n = 4), and patients with various other diseases (n = 5). (C) 2000 Elsevier Science B.V. All rights reserved. |
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