title: [Mass spectrometry and inherited metabolic diseases diagnosis].
abstract: Tandem mass spectrometry is used for the diagnosis and following of metabolic disorders for acylcarnitine profiling and with liquide chromatography to explore creatin metabolism and amino and bile acids disorders. The analysis of organic acids by GC-MS is still the reference method for the diagnosis of inherited disorders of organiques acides and sterols. These techniques are also used to perform "in vitro" functional tests.
authors.affiliation: UF métabolisme général, hormonal et maladies rares, Laboratoire de biochimie et biologie moléculaire, Centre de biologie pathologie, CHRU de Lille, Lille, France.
authors.forename: Gilbert
authors.initials: G
authors.lastname: Briand
authors.affiliation: Laboratoire de biochimie spécialisée, CHU de Dijon, Dijon, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Lemaire-Ewing
authors.affiliation: Division de biochimie, Hôpital de Montréal pour enfants, Centre universitaire de santé McGill (CUSM), Montréal, Québec, Canada.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Parente
authors.affiliation: Laboratoire de biologie et de recherche pédiatriques, American memorial hospital, CHU de Reims, Reims, France.
authors.forename: Roselyne
authors.initials: R
authors.lastname: Garnotel
mesh_terms: D001774:Blood Chemical Analysis / Q000379:methods*; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis / Q000097:blood / Q000378:metabolism; D018929:Cell Culture Techniques / Q000379:methods; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D050356:Lipid Metabolism; D013058:Mass Spectrometry / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D008928:Mitochondria / Q000737:chemistry / Q000378:metabolism; D053719:Tandem Mass Spectrometry
chemical_list: C116917:acylcarnitine; D002331:Carnitine
keywords: gas chromatography-mass spectrometry; inherited metabolic diseases; tandem mass spectrometry