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.


Pipecolic Acid Tyrosinemia Type Lysinuric Protein Intolerance Ornithine Carbamoyltransferase Plasma Amino Acid Level 
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© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

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

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