ISSN:
0935-6304
Keywords:
Enantioselective Multidimensional gas Chromatpgraphy-mass spectrometry (enantio-MDGC-MS)
;
Methyl chloroformate (MCF) derivatization
;
Inherited metabolic disease
;
Maple syrup urine disease (MSUD)
;
Chemistry
;
Analytical Chemistry and Spectroscopy
Source:
Wiley InterScience Backfile Collection 1832-2000
Topics:
Chemistry and Pharmacology
Notes:
Maple Syrup Urine disease (USUD) is an autosomal recessive inherited metabolic disorder of branched-chain amino acid (L-valin, L-leucine, and L-isoleucine metabolism named after the characteristic smell of affected patients urine. MSUD is caused by a deficiency of the branched-chain α-keto acid dehydrogenase compex resulting in an accumulation of branched-chain aamino acids and the corresponding α-keto-and α-hydroxy acids in blood, urine and cerebrospinal fluid causing neurological damage and mental retardation. The enantioselective analysis of chiral MSUD metabolites and analysis of achiral compounds as corresponding N,O-methoxycarbonyl methyl esters by derivatization with methyl chloroformate (MCF) has been achieved simultaneusly by enantioselective multidimensional gas chromatography-mass spectrometry using heptakis (2,3-di-O-methyl-6-O-tert-butyl-dimethyl-silyl)-β-cyclodextrin as chiral stationary phase. Derivatization with MCF allows the analysis of the structurally different metabolitetes such as branched-chain-carboxylic-, α-oxo-, α-hydroxy- and α-amino acids in a single chromaatographic run. Mass selective detection immensely improves the unequivocaaal identification of metabolites even when they occur as trace compound. The described method allows a reliable screening of MSUD metabolites in patients' urine without time consuming sample preparation and is also suitable for label enrichment analysis without any methodical changes. During this investigation urine sample from three MSUD paatients were analyzed.
Additional Material:
7 Ill.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1002/jhrc.1240200703
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