Costa, CGGuerand, WSStruys, EAHolwerda, Uten Brink, HJde Almeida, ITDuran, MJakobs, C2015-12-302015-12-302000JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS. - Vol. 21, n. 6 (JAN 2000), p. 1215-12240731-7085http://hdl.handle.net/10451/21411The 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.application/pdfengChemistry, AnalyticalPharmacology & Pharmacyjournal article