Abstract
The analysis of organic acids in urine is commonly included in routine procedures for detecting many inborn errors of metabolism. Many analytical methods allow for both qualitative and quantitative determination of organic acids, mainly in urine but also in plasma, serum, whole blood, amniotic fluid, and cerebrospinal fluid. Liquid–liquid extraction and solid-phase extraction using anion exchange or silica columns are commonly employed approaches for sample treatment. Before analysis can be carried out using gas chromatography-mass spectrometry, organic acids must be converted into more thermally stable, volatile, and chemically inert forms, mainly trimethylsilyl ethers, esters, or methyl esters.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Björkman, L., McLean, C., Steen, G. (1976) Organic acids in urine from human newborns. Clin Chem 22, 49–52.
Chalmers, R. A., Healy, M. J., Lawson, A. M., Watts, R. W. (1976) Urinary organic acids in man. II. Effects of individual variation and diet on the urinary excretion of acidic metabolites. Clin Chem 22, 1288–1291.
Kumps, A., Duez, P., Mardens, Y. (2002) Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem 48, 708–717.
Pitt, J. J., Eggington, M., Kahler, S. G. (2002) Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin Chem 48, 1970–1980.
Rebollido, M., Cocho, J. A., Castiñeiras, D. E., Bóveda, M. D., Fraga, J. M. (2006) Aplicación de la espectrometría de masas en tándem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel. Quím Clín 25, 64–74.
Chalmers, R. A., Healy, M. J., Lawson, A. M., Hart, J. T., Watts, R. W. (1976) Urinary organic acids in man. III. Quantitative ranges and patterns of excretion in a normal population. Clin Chem 22, 1292–1298.
Perry, T. L., Hansen, S. (1974) Artifacts and pitfalls in interpretation of gas chromatograms in Application of Gas Chromatography-Mass Spectrometry to the Investigation of Human Disease. In Proceedings of a workshop, Montreal, May 1973. McGill University-Montreal Children’s Hospital Research Institute, Montreal, Quebec, Canada, 89–102.
Paterson, N. (1967) Relative constancy of 24-hour urine volume and 24-hour creatinine output. Clin Chim Acta 18, 57–58.
Zorab, P. A. (1969) Normal creatinine and hydroxyproline excretion in young persons. Lancet 29, 1164–1165.
Applegarth, D. A., Hardwick, D. F., Ross, P. M. (1968) Creatinine excretion in children and the usefulness of creatinine equivalents in amino acid chromatography. Clin Chim Acta 22, 131–134.
Larsen, K. (1972) Creatinine assay by a reaction-kinetic principle. Clin Chim Acta 41, 209–217.
Tanaka, K., West-Dull, A., Hine., D. G., Lynn, T. B., Lowe, T. (1980) Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem 26, 847–853.
Tanaka, K., Hine, D. G., West-Dull, A., Nad Lynn, T. B. (1980) Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds. Clin Chem 26, 1839–1846.
Thompson, R. M., Belanger, B. G., Wappner, R. S., Brandt, I. K. (1975) An artifact in the gas chromatographic analysis of urinary organic acids from phenylketonuric children: decarboxylation of the phenylpyruvic acid during extraction. Clin Chim Acta 61, 367–374.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media, LLC
About this protocol
Cite this protocol
la Marca, G., Rizzo, C. (2011). Analysis of Organic Acids and Acylglycines for the Diagnosis of Related Inborn Errors of Metabolism by GC- and HPLC-MS. In: Metz, T. (eds) Metabolic Profiling. Methods in Molecular Biology, vol 708. Humana Press. https://doi.org/10.1007/978-1-61737-985-7_4
Download citation
DOI: https://doi.org/10.1007/978-1-61737-985-7_4
Published:
Publisher Name: Humana Press
Print ISBN: 978-1-61737-984-0
Online ISBN: 978-1-61737-985-7
eBook Packages: Springer Protocols