title: Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS.
abstract: The analysis of organic acids in urine is commonly included in routine procedures for detecting many inborn errors of metabolism. Many analytical methods allow for both qualitative and quantitative determination of organic acids, mainly in urine but also in plasma, serum, whole blood, amniotic fluid, and cerebrospinal fluid. Liquid-liquid extraction and solid-phase extraction using anion exchange or silica columns are commonly employed approaches for sample treatment. Before analysis can be carried out using gas chromatography-mass spectrometry, organic acids must be converted into more thermally stable, volatile, and chemically inert forms, mainly trimethylsilyl ethers, esters, or methyl esters.
authors.affiliation: Mass Spectrometry, Clinical Chemistry and Pharmacology Laboratory, Department of Pharmacology, University of Florence, Meyer Children's Hospital, Florence, Italy. g.lamarca@meyer.it
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
authors.forename: Cristiano
authors.initials: C
authors.lastname: Rizzo
mesh_terms: D002849:Chromatography, Gas / Q000379:methods* / Q000592:standards; D002851:Chromatography, High Pressure Liquid / Q000379:methods* / Q000592:standards; D002853:Chromatography, Liquid; D003404:Creatinine / Q000652:urine; D005260:Female; D005998:Glycine / Q000737:chemistry / Q000302:isolation & purification / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D009930:Organic Chemicals / Q000737:chemistry / Q000302:isolation & purification / Q000652:urine*; D010091:Oximes / Q000737:chemistry; D012015:Reference Standards; D013048:Specimen Handling; D053719:Tandem Mass Spectrometry / Q000379:methods* / Q000592:standards; D016482:Urinalysis / Q000379:methods* / Q000592:standards
chemical_list: D009930:Organic Chemicals; D010091:Oximes; D003404:Creatinine; D005998:Glycine