Diagnosing AICA-ribosiduria by capillary electrophoresis.
|
| Abstract |
AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic method for screening of patients with AICA-ribosiduria is described. The method is based on direct ultraviolet detection of 5-amino-4-imidazolecarboxamide (AICA) and 5-amino-4-imidazolecarboxamide riboside (AICAr) in untreated urine. Background electrolyte consists of 100mM malonic acid adjusted with gamma-aminobutyric acid (pH 2.7). Under the given separation conditions both compounds of interest are well separated from other substances with separation efficiency of 1020000 and 130000 theoretical plates/m for AICA and AICAr, respectively. Total analysis time is 3 min with the limits of detection of 3.6 microM and 4.5 microM for AICA and AICAr, respectively. The usefulness of the presented method for screening of patients with ATIC deficiency is demonstrated on samples of Chinese hamster ovary cell line defective in ATIC activity, spiked urine samples and urine samples from patients treated with high-dose MTX which do not excrete increased amounts of AICA and AICAr compared to untreated controls (p<0.05). The described method is fast and effective enough for diagnostic applications.
|
|---|---|
| Authors | Petr Hornik, Petra Vyskocilová, David Friedecký, Tomás Adam |
| Journal | Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 843 Issue 1 Pg. 15-9 (Oct 20 2006) ISSN: 1570-0232 [Print] Netherlands |
| PMID | 16798121 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Chemical References |
|
| Topics |
|
Join CureHunter, for free Research Interface BASIC access!
Realize the full power of the drug-disease research graph!