Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization.
Clin Chim Acta
; 359(1-2): 179-88, 2005 Sep.
Article
em En
| MEDLINE
| ID: mdl-15978564
ABSTRACT
BACKGROUND:
Glutaric aciduria type I (GA1) is an autosomal recessive disorder that usually causes neurological damage. Early diagnosis of the disease prior to the appearance of clinical symptoms can lead to better outcomes.METHODS:
We describe a simple and selective HPLC method with intramolecular excimer-forming fluorescence derivatization to diagnose GA1. Glutaric acid (GA) and 3-hydroxyglutaric acid (3HGA) in urine and an internal standard were derivatized with 1-pyrenebutyric hydrazide (PBH). The derivatives were separated on a C18 column and fluorometrically detected at 475 nm (excitation of 345 nm) with a run time of 18 min.RESULTS:
Excellent linearity over a wide range, reproducibility (coefficient of variation < or =14.5%), and sensitivity (limit of detection 0.4 micromol/l 3HGA and 0.2 micromol/l GA) were obtained. A retrospective study on previously diagnosed GA1 patients' urine from our laboratory archives between 1999 and 2004 was performed by analysts blinded to the study.CONCLUSIONS:
The method enabled us to differentiate GA1 cases (n=36) from controls (n=99), regardless of the years of urine storage. The method is valuable for both retrospective and prospective diagnoses of GA1.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Screening_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article