Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. 1999

M Kimura, and T Yamamoto, and S Yamaguchi
Department of Pediatrics, Shimane Medical University, Izumo, Japan. kimura@shimane-med.ac.jp

We have developed a personal computer-based system designed for automated metabolic profiling of urinary organic acids by gas chromatography-mass spectrometry (GC/MS) and data interpretation for organic acidemia screening. For the automated profiling, we compiled retention indices, two target ions and their intensity ratio for 126 urinary metabolites. Metabolites above the cut-off values were flagged as abnormal compounds. The data interpretation was based on combination of the flagged metabolites. Diagnostic or index metabolites were categorized into three groups, "AND," "OR" and "NO," and compiled for each disorder to improve the specificity of the diagnosis. Groups "AND" and "OR" comprised essential and optional compounds, respectively, which and both to reach a specific diagnosis. Group "NO" comprised metabolites that must be absent to make a definite diagnosis. We tested this system by analyzing urine specimens from 48 patients previously diagnosed as having organic acidemias. In all cases, the diagnostic metabolites were identified and each correct diagnosis could be found among the possible diseases suggested by the system. Hence, with this simplified automated system, more people will be able to participate extensively in any screening programs using GC/MS.

UI MeSH Term Description Entries
D007202 Indicators and Reagents Substances used for the detection, identification, analysis, etc. of chemical, biological, or pathologic processes or conditions. Indicators are substances that change in physical appearance, e.g., color, at or approaching the endpoint of a chemical titration, e.g., on the passage between acidity and alkalinity. Reagents are substances used for the detection or determination of another substance by chemical or microscopical means, especially analysis. Types of reagents are precipitants, solvents, oxidizers, reducers, fluxes, and colorimetric reagents. (From Grant & Hackh's Chemical Dictionary, 5th ed, p301, p499) Indicator,Reagent,Reagents,Indicators,Reagents and Indicators
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008401 Gas Chromatography-Mass Spectrometry A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds. Chromatography, Gas-Liquid-Mass Spectrometry,Chromatography, Gas-Mass Spectrometry,GCMS,Spectrometry, Mass-Gas Chromatography,Spectrum Analysis, Mass-Gas Chromatography,Gas-Liquid Chromatography-Mass Spectrometry,Mass Spectrometry-Gas Chromatography,Chromatography, Gas Liquid Mass Spectrometry,Chromatography, Gas Mass Spectrometry,Chromatography, Mass Spectrometry-Gas,Chromatography-Mass Spectrometry, Gas,Chromatography-Mass Spectrometry, Gas-Liquid,Gas Chromatography Mass Spectrometry,Gas Liquid Chromatography Mass Spectrometry,Mass Spectrometry Gas Chromatography,Spectrometries, Mass-Gas Chromatography,Spectrometry, Gas Chromatography-Mass,Spectrometry, Gas-Liquid Chromatography-Mass,Spectrometry, Mass Gas Chromatography,Spectrometry-Gas Chromatography, Mass,Spectrum Analysis, Mass Gas Chromatography
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D008838 Microcomputers Small computers using LSI (large-scale integration) microprocessor chips as the CPU (central processing unit) and semiconductor memories for compact, inexpensive storage of program instructions and data. They are smaller and less expensive than minicomputers and are usually built into a dedicated system where they are optimized for a particular application. "Microprocessor" may refer to just the CPU or the entire microcomputer. Computers, Personal,Microprocessors,Computer, Personal,Microcomputer,Microprocessor,Personal Computer,Personal Computers
D010865 Pilot Projects Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work. Pilot Studies,Pilot Study,Pilot Project,Project, Pilot,Projects, Pilot,Studies, Pilot,Study, Pilot
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children

Related Publications

M Kimura, and T Yamamoto, and S Yamaguchi
June 2013, Analytical and bioanalytical chemistry,
M Kimura, and T Yamamoto, and S Yamaguchi
January 2023, PeerJ,
M Kimura, and T Yamamoto, and S Yamaguchi
February 2020, International journal of molecular sciences,
M Kimura, and T Yamamoto, and S Yamaguchi
January 1991, Computer methods and programs in biomedicine,
M Kimura, and T Yamamoto, and S Yamaguchi
February 1992, Nihon Igaku Hoshasen Gakkai zasshi. Nippon acta radiologica,
M Kimura, and T Yamamoto, and S Yamaguchi
December 2016, Journal of laboratory automation,
M Kimura, and T Yamamoto, and S Yamaguchi
January 2016, Food science and biotechnology,
M Kimura, and T Yamamoto, and S Yamaguchi
February 2020, Endocrine,
M Kimura, and T Yamamoto, and S Yamaguchi
August 2012, Analytical and bioanalytical chemistry,
Copied contents to your clipboard!