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Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

descriptionPublicationkeyboard_double_arrow_right Part of book or chapter of book , Article 17 Dec 2010Publisher:Humana Press

Authors: Cécile Acquaviva; Monique Piraud; Séverine Ruet; Christine Vianey-Saban; David Cheillan; Sylvie Boyer; Pascale Clerc-Renaud;

doi: 10.1007/978-1-61737-985-7_2

pmid: 21207282

Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

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Abstract

The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread technique in use was ion-exchange chromatography followed by post-column derivatization with ninhydrin, a method which is the basis of numerous automated AA analyzers with a throughput of about eight samples/day. The emergence of tandem mass spectrometry (MS/MS) coupled to liquid chromatography (LC) has made possible the measurement of many metabolites for the diagnosis of inborn errors of metabolism. The LC-MS/MS method described here allows the clinical diagnosis of AA disorders by analysis of underivatized AAs and derivative molecules in various biological samples prepared by methanol precipitation. AAs are separated by ion-pairing reversed-phase LC, using perfluorocarboxylic acid as an ion-pairing agent. Each AA is detected in MS/MS-positive ionization mode by its specific transition. The method allows the analysis of about 40 biological samples/day.

Keywords

Analytic Sample Preparation Methods, Tandem Mass Spectrometry, Humans, Metabolomics, Amino Acids, Metabolism, Inborn Errors, Chromatography, Liquid

Impact byBIP!

	citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	16
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Top 10%
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	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Top 10%