• This record comes from PubMed

Analysis of aminoimidazole ribosides by capillary electrophoresis--diagnosing defects in second part of purine biosynthetic pathway

. 2007 Feb ; 376 (1-2) : 184-9. [epub] 20060929

Language English Country Netherlands Media print-electronic

Document type Journal Article, Research Support, Non-U.S. Gov't

Links

PubMed 17010959
DOI 10.1016/j.cca.2006.08.020
PII: S0009-8981(06)00583-3
Knihovny.cz E-resources

BACKGROUND: Only three inherited metabolic defects have been identified in purine de novo synthesis (PDNS). We present here CE methods for diagnosing defects in the second half of PDNS (from sixth to tenth enzymatic conversion) based on analysis of aminoimidazole ribosides - dephosphorylated intermediates - in urine. METHODS: Assays were performed in an uncoated fused-silica capillary using two electrophoretic separation systems: 60 mmol/l borate - 2-amino-2-methyl-1-propanol-80 mmol/l sodium dodecylsulfate (pH 9.6) and 200 mmol/l phosphate - sodium (pH 1.8). RESULTS: The reported conditions allowed separation of all metabolites from major urinary constituents with analysis time less than 10 min and separation efficiency of 220 and 350 thousands theoretical plates per meter for borate and phosphate system, respectively. The intra- and interday imprecisions were less than 4.4% and 9.9% CV. Potential usefulness of the methods was demonstrated on samples from a patient with adenylosuccinate lyase deficiency and Chinese hamster ovary cell lines defective in PDNS. CONCLUSIONS: CE is a useful and effective tool in the analysis of aminoimidazole ribosides which enables diagnosis of known as well as not so far identified inherited defects of PDNS pathway.

References provided by Crossref.org

Find record

Citation metrics

Loading data ...

Archiving options

Loading data ...