Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)

被引：1
作者：
Hobert, Judith A. [1 ,2 ,3 ]
Guymon, Rebecca [2 ]
Yuzyuk, Tatiana [1 ,2 ,3 ]
Pasquali, Marzia [1 ,2 ,3 ]
机构：
[1] Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT 84132 USA
[2] ARUP Labs, Salt Lake City, UT 84108 USA
[3] Univ Utah, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT 84132 USA
来源：
CURRENT PROTOCOLS | 2023年 / 3卷 / 04期
关键词：
acylglycine; fatty acid beta-oxidation; glycine N-acylase; organic acidemia; UPLC-MS/MS; URINARY ACYLGLYCINES; DIAGNOSIS; ISOVALERYLGLYCINE; QUANTIFICATION; DISORDERS; DEFECTS;
D O I：
10.1002/cpz1.758
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
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. (c) 2023 Wiley Periodicals LLC.
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页数：12
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