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KMID : 0918520150150020065
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 2 p.65 ~ p.71
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Diagnostic Method for Inborn Metabolic Disorders using differentiation between D- and R- Isomers on GC-MS
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Yoon Hye-Ran
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Abstract
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Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.
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KEYWORD
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Achiral column, Derivatization of diastereomer, Inborn metabolic disorder
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