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Measurement of urinary medium chain acyl glycines by gas-chromatography negative-ion chemical ionization mass-spectrometry

Carter, S.M.B. and Midgely, J.M. and Watson, D.G. and Logan, R.W. (1991) Measurement of urinary medium chain acyl glycines by gas-chromatography negative-ion chemical ionization mass-spectrometry. Journal of Pharmaceutical and Biomedical Analysis, 9 (10-12). pp. 969-975. ISSN 0731-7085

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Abstract

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism, which is difficult to diagnose, partly because of its unpredictable clinical presentation. A specific diagnostic marker is an increased excretion of certain medium chain acyl glycines. A sensitive and specific method has been developed for the extraction, derivatization, identification and quantitation of urinary medium chain acyl glycines by gas chromatography-negative ion chemical ionization mass spectrometry (GC-NICIMS). The following series of standard acyl glycines has been synthesized and characterized: hexanoyl, octanoyl, 3-phenylpropionyl and suberyl and their respective isotopomers (using13C2-glycine; for use as internal standards). The range of excretion of these compounds in normal subjects has been established using this method and increased excretion of acyl glycines, particularly hexanoyl, 3-phenylpropionyl and suberyl was successfully demonstrated in three MCAD deficient subjects from one family.