title: Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies.
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.
authors.affiliation: Département d'Investigation Métabolique Enfants Malades, Groupe Hospitalier Necker-Enfants Malades, Paris, France.
authors.forename: P R
authors.initials: PR
authors.lastname: Parvy
authors.forename: J I
authors.initials: JI
authors.lastname: Bardet
authors.forename: D M
authors.initials: DM
authors.lastname: Rabier
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: P P
authors.initials: PP
authors.lastname: Kamoun
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies