Acylglycine Analysis by Ultra‐Performance Liquid Chromatography‐Tandem Mass Spectrometry (UPLC‐MS/MS). (13th February 2018)

• Record Type: Journal Article
• Authors: Hobert, Judith A.; Liu, Aiping; Pasquali, Marzia
• Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 91(2016)
• Page Start: 17.25.1
• Page End: 17.25.12
• Publication Date: 2018-02-13
• Subjects: acylglycine -- fatty acid β‐oxidation -- glycine N‐acylase -- organic acidemia -- UPLC‐MS/MS; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/cphg.19
• Languages: English
• ISSNs: 1934-8258

Abstract

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.