Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies.
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.
Parvy
P R
PR
Département d'Investigation Métabolique Enfants Malades, Groupe Hospitalier Necker-Enfants Malades, Paris, France.
Bardet
J I
JI
Rabier
D M
DM
Saudubray
J M
JM
Kamoun
P P
PP
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