- 作者: 葉小帆; 蕭廣仁; 洪淑慧; 張坤田
- 作者服務機構: Department of Biochemistry, Nation Yang-Ming Medical College and Clinical Biochemistry Research Laboratory, Department of Medical Research, Veterans General Hospital, Taipei, Taiwan 11217, R.O.C.
- 中文摘要: A gas chromatography/mass spectromethry (GC/MS) coupled system has been established for the confirmatory identification of abnormal urinary organic acids in inherited metabolic diseases. Samples of patient urines were extracted with an organic solvent and trimethylsilylated (TMS). A mass spectra of chromotographically separated TMS derivatives can be obtained using the GC/MS coupled system with a single analytical run. Those compounds with close methylene units (e.g., 4-hydroxyphenylacetaic acid and phenylpyruvic acid) in the gas chromotograph can be identified by their specific mass spectra. The results identicate that this GC/MS system is a powerful method for identifying abnormal urinary organic acids. These acids can be identified by comparison with authentic mass spectra established in our laboratories or with mass spectra files from other sources or they can be directly identified by analysis of the mass spectrum. By using this system, we were able to make positive identification of several inherited metabolic diseases found in Chinese patients, including phenylketonuria, propionic acidemia, and methylmalonic aciduria. This GC/MS system is a powerful tool for the diagnosis of inherited metabolic diseases.
- 英文摘要: --
- 中文關鍵字: Gas chromatography; GC; gas chromatography/mass spectromethry; GC/MS; inherited metabolic diseases; urinary organic acid.
- 英文關鍵字: Gas chromatography; GC; gas chromatography/mass spectromethry; GC/MS; inherited metabolic diseases; urinary organic acid.