| Literature DB >> 10708405 |
C G Costa1, W S Guérand, E A Struys, U Holwerda, H J ten Brink, I Tavares de Almeida, M Duran, C Jakobs.
Abstract
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid beta-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).Entities:
Mesh:
Substances:
Year: 2000 PMID: 10708405 DOI: 10.1016/s0731-7085(99)00235-6
Source DB: PubMed Journal: J Pharm Biomed Anal ISSN: 0731-7085 Impact factor: 3.935