title: Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
abstract: Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. Here, a method that is currently performed using ultra-performance liquid chromatography/tandem mass spectrometry (UPLC-MS/MS) is described. © 2016 by John Wiley & Sons, Inc.
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.|ARUP Laboratories, Salt Lake City, Utah.|ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.
authors.forename: Judith A
authors.initials: JA
authors.lastname: Hobert
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.
authors.forename: Aiping
authors.initials: A
authors.lastname: Liu
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.|ARUP Laboratories, Salt Lake City, Utah.|ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.
authors.forename: Marzia
authors.initials: M
authors.lastname: Pasquali
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine; D002853:Chromatography, Liquid / Q000379:methods*; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006801:Humans; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: C016955:N-acylglycine esters; D005998:Glycine
keywords: UPLC-MS/MS; acylglycine; fatty acid β-oxidation; glycine N-acylase; organic acidemia