title: Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS.
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).
authors.affiliation: Centro de Metabolismos e Genetica, Faculdade de Farmacia da Universidade de Lisboa, Portugal.
authors.forename: C G
authors.initials: CG
authors.lastname: Costa
authors.forename: W S
authors.initials: WS
authors.lastname: Guérand
authors.forename: E A
authors.initials: EA
authors.lastname: Struys
authors.forename: U
authors.initials: U
authors.lastname: Holwerda
authors.forename: H J
authors.initials: HJ
authors.lastname: ten Brink
authors.forename: I
authors.initials: I
authors.lastname: Tavares de Almeida
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000214:Acyl Coenzyme A / Q000378:metabolism; D042964:Acyl-CoA Dehydrogenase; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D005998:Glycine / Q000652:urine*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D000214:Acyl Coenzyme A; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D005998:Glycine