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J Chromatogr


Title:Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications
Author(s):Lowes S; Rose ME; Mills GA; Pollitt RJ;
Address:"Departmen of Chemistry, Open University, Milton Keynes, UK"
Journal Title:J Chromatogr
Year:1992
Volume:577
Issue:2
Page Number:205 - 214
DOI: 10.1016/0378-4347(92)80241-h
ISSN/ISBN:
Abstract:"Many disorders of organic acid metabolism are associated with abnormalities in the levels of acylcarnitines excreted in urine. Profiling of urinary acylcarnitines allows diagnosis and characterisation of many acidurias and acidemias, monitoring dietary treatment of such patients, and elucidation of the metabolism of some exogenous acidic compounds. Urine (ca. 0.5 ml) was subjected to a simple work-up by ion-exchange chromatography, and the isolated acylcarnitines were derivatized by cyclization in 35 min to give volatile lactones that are compatible with gas chromatography-mass spectrometry using electron or chemical ionization. The feasibility of this new and affordable procedure has been confirmed by identifying urinary acylcarnitines in cases of medium-chain acyl-coenzyme A dehydrogenase deficiency, propionic acidemia and isovaleric acidemia"
Keywords:"Acylation Carnitine/analogs & derivatives/*urine Gas Chromatography-Mass Spectrometry Humans Infant Metabolism, Inborn Errors/diagnosis/urine;"
Notes:"MedlineLowes, S Rose, M E Mills, G A Pollitt, R J eng Research Support, Non-U.S. Gov't Netherlands 1992/06/10 J Chromatogr. 1992 Jun 10; 577(2):205-14. doi: 10.1016/0378-4347(92)80241-h"

 
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