Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Diagnostic Method for Inborn Metabolic Disorders using differentiation between D- and R- Isomers on GC-MS

D체와 R체 이성질체 판별과 GC-MS를 이용한 유전성 대사이상질환의 진단법 개발

  • Yoon, Hye-Ran (Biomedical & Pharmaceutical Analysis Lab, College of Pharmacy, Duksung Women's University)
  • 윤혜란 (덕성여자대학교 약학대학 생.의약분석실)
  • Published : 2015.08.25
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Abstract

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.

Keywords

References

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