Resumen

MALAVER ORTEGA, Luis Fernando et al. Plasma amino acid quantification using High Performance Liquid Chromatography. Acta bioquím. clín. latinoam. [online]. 2009, vol.43, n.4, pp.647-660. ISSN 0325-2957.

Aminoacidopathies are inborn errors of the amino acid intermediary metabolism. The benchmark method used for their diagnosis and monitoring is the quanti!cation of free amino acids in biological fluids using High Performance Liquid Chromatography (HPLC), which needs to be compared against normal reference values. However, those amino acid reference values are not available for the Colombian population and the diagnosis is usually made using values from American or European populations. In this work, plasma amino acid reference values in non-affected children (n=36) and adults (n=17) were established, using an HPLC method with a postcolumn derivatization with ninhidrine. Plasma amino acid reference values in a Colombian population were slightly higher compared with those reported for other populations, and enabled the identification of twelve aminoacidopathies including urea cycle disorders, phenylketonuria, hyperphenylalaninemia, nonketotichyperglycinemia, hepatorrenaltyrosinemia and maple syrup urine disease. The implementation of amino acid cuantification by HPLC and the construction of plasma amino acid reference values is very useful for a suitable and precise diagnosis of amino acid disorders, the implementation of proper nutritional treatments, and an increased knowledge of aminoacidopathy incidence in Colombia.

Palabras clave : Reference values; Amino acids; Aminoacidopathies; High performance liquid chromatography.

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