Advertisement

Abstract

Amino acid analysis is one of the most frequently requested tests in the selective screening of inherited metabolic disease. To date, at least 57 primary defects of amino acid catabolism/biosynthesis are known, most of these associated with clinical symptoms. The differential diagnosis of the aminoacidopathies requires the quantitative analysis of not only the 20 physiological amino acids, but also more than 50 unusual amino acids, which may be of key diagnostic importance. Historically, the amino acid analysis was developed using cation-exchange liquid chromatography with lithium citrate buffers as eluents and post-column ninhydrin reaction with photometric detection (amino acid analyzer). This technique is widespread in use. High-performance liquid chromatography with pre-column derivatisation is versatile and cost-effective, but has some limitations. The recently introduced tandem mass spectrometry approach is a promising technique which may prove to be superior on the long run. Knowledge of the nutritional state, age of the patient, potentially interfering drugs and other secondary changes is summarized in this chapter as an aid in the diagnosis of primary inherited defects of amino acid metabolism.

Keywords

Pipecolic Acid Tyrosinemia Type Lysinuric Protein Intolerance Ornithine Carbamoyltransferase Plasma Amino Acid Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Blau N, Duran M, Blaskovics ME, Gibson KM (2003) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer Verlag, Berlin, pp 1–716Google Scholar
  2. 2.
    Bremer HJ, Duran M, Kamerling JP, Przyrembel H, Wadman SK (1981) Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Urban Schwarzenberg, München, pp 1–525Google Scholar
  3. 3.
    Clarke JTR (2006) A Clinical Guide to Inherited Metabolic Diseases. Cambridge University Press, Cambridge, UK, pp 1–338Google Scholar
  4. 4.
    Fernandes J, Saudubray JM, Van den Berghe G, Walter J (2006) Inborn Metabolic Diseases. Springer Verlag, Berlin, pp 1–438Google Scholar
  5. 5.
    Leah JM, Palmer T, Griffin M, Wingad CJ, Briddon A, Oberholzer VG (1986) Urine amino acid analysis by HPLC in the investigation of inborn errors of metabolism. J Inherit Metab Dis 9:250–253CrossRefGoogle Scholar
  6. 6.
    Mayne PD, Roche G, Deverell D (2001) Amino acids: analytical aspects, Workshop report. J Inherit Metab Dis 24:305–308PubMedCrossRefGoogle Scholar
  7. 7.
    Parvy P, Bardet J, Rabier D, Kamoun P (1995) A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system. Clin Chim Acta 235:1–10PubMedCrossRefGoogle Scholar
  8. 8.
    Piraud M, Vianey-Saban C, Bourdin C, Acquavica-Bourdain C, Boyer S, Elfakir C, Bouchu D (2005) A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatized amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism. Rapid Commun Mass Spectrom 19:3287–3297PubMedCrossRefGoogle Scholar
  9. 9.
    Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization – tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399–1406PubMedCrossRefGoogle Scholar
  10. 10.
    Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B (2001) The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp 1–6338Google Scholar
  11. 11.
    Walker V, Mills GA (1995) Quantitative methods for amino acid analysis in biological fluids. Ann Clin Biochem 32:28–57PubMedGoogle Scholar
  12. 12.
    Zschocke J, Hoffmann GF (2004) Vademecum Metabolicum. Schattauer, Milupa, Friedrichsdorf, pp 1–164Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • Marinus Duran
    • 1
  1. 1.Laboratory Genetic Metabolic Diseases, Academic Medical CenterUniversity of AmsterdamAmsterdamNetherlands

Personalised recommendations