Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies

Clin Chim Acta. 1988 Sep 15;176(3):269-77. doi: 10.1016/0009-8981(88)90186-6.

Abstract

By a retrospective study on a two-year period (1494 patients) we have obtained evidence that the best method of screening aminoacidopathies is given by the ion-exchange chromatography of amino acids. This method gave the highest rates of diagnosis and allowed diagnosis of aminoacidopathies that other techniques such as thin-layer chromatography would fail to detect because the concentrations of some amino acids, although pathological, were too low. The diagnostic rate was markedly improved by a skilled clinical selection of the population studied.

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Child
  • Child, Preschool
  • Chromatography, Ion Exchange / methods
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Retrospective Studies