A rapid and simple screening method for detection of erotic aciduria by capillary zone electrophoresis

Clinica Chimica Acta

Volumn 259, Issue 1-2, 1997, Pages 73-81

  Ševčíka, Juraj ^a   Adam, Tomáš ^b   Sázel, Vladimír ^c  

^a PALACKÝ UNIVERSITY   (Czech Republic)

^b Medical Hospital   (Czech Republic)

^c Lab of District Hygiene Center   (Czech Republic)

Author keywords

Capillary zone electrophoresis; Inherited disorders; Orotic acid; Orotic aciduria; Pyrimidines; Screening methods

Indexed keywords

ALLOPURINOL; OROTIC ACID;

ACCURACY; ACIDURIA; ARTICLE; CAPILLARY ZONE ELECTROPHORESIS; CONTROLLED STUDY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; ION EXCHANGE CHROMATOGRAPHY; PRIORITY JOURNAL; QUANTITATIVE ASSAY; RELIABILITY; TECHNIQUE; ULTRAVIOLET SPECTROPHOTOMETRY; URINALYSIS;

ACIDOSIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, ION EXCHANGE; ELECTROPHORESIS, CAPILLARY; HUMANS; OROTIC ACID;

EID: 0043165897     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(96)06463-7     Document Type: Article

References (21)

1. Suttle DP, Becroft DM, Webster DR. Hereditary orotic aciduria and other disorders of pyrimidine metabolism. In: Scriver CR, Baudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill, 1990; 1095-1126.
2. Brusilow SW. Determination of urine orotate and orotidine and plasma ammonium. In: Hommes FA, ed. Techniques in diagnostic human biochemical genetics, a laboratory manual. New York: Wiley-Liss, 1991; 345-357.
3. Cohen A, Staal GJ, Ammann AJ, Martin DW Jr. Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase. J Clin Invest 1977;60:491-494.
4. Rajantie J. Orotic aciduria in lysinuric protein intolerance: dependence on urea cycle intermediates. Pediatr Res 1981;15:115-119.
5. Fox RM, Royse-Smith D, O'Sulivan WJ. Orotidinuria induced by allopurinol. Science 1970; 196:861-862.
6. Berdmore TD, Cashman JS, Kelly WN. Mechanism of allopurinol-mediated increased in enzyme activity in man. J Clin Invest 1972;51:1823-1831.
7. Fallon HJ, Frei E, Block J, Seegmuler JE. The uricosuria and orotic aciduria induced by 6-azauridine. J Clin Invest 1961;40:1906-1914.
8. Burlina AB, Ferrari V, Dionisi-Visi C, Bordugo A, Zacchello F, Tuchinan M. Allopurinol challenge test in children. J Inher Metab Dis 1992;15:707-712.
9. Sebesta I, Krjjt J, Fairbanks LD, Simmonds AH. The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency. J Inher Metab Dis 1994;17:133 134.
10. Applegarth DA, Toone JR. Orotic acid, urinary. In: Meites S, Buffone GJ, Cheng MH et al., eds. Pediatric clinical chemistry, 3rd ed. Washington, DC: American Association for Clinical Chemistry, 1989;201-202.
11. Adachi T, Tanimura A, Asahina M. A colourimetric determination of orotic acid. J Viatminol 1963;9:217-226.
12. Kesner L, Aronson EL, Silverman M, Chan PC. Determination of orotic acid and dihydroorotic acids in biological fluids and tissues. Clin Chem 1975;21:353-355.
13. Glasgow AM. A new method for measuring urinary orotic acid. Am J Clin Pathol 1982;77:452-455.
14. Tax WJM, Veerkamp JH, Schnetlen EDAM. The urinary excretion of orotic acid and orotidine, measured by an isotope dilution assay. Clin Chim Acta 1978;90:217-223.
15. McCann MT, Thompson MM, Gueron IC, Tuchrnan M. Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution. Clin Chem 1995;41(5):739-743.
16. Deyl F, Tagliaro F, Miksik I. Biomedical application of capillary electrophoresis. J Chromatogr 1994;656:3-27.
17. Landers JP. Clinical capillary electrophoresis. Clin Chem 1995;41:495-509.
18. Foret F, Krivankova L, Bocek P. Capillary zone electrophoresis. Weinheim: VCH Verlagsgesellschaft, 1993;1-346.
19. Van Gennip AH, Van Noordenburg-Huistra DY, De Bree PK, Wadman SK. Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism. Clin Chim Acta 1978;86:7-20.
20. Sebesta I, Fairbanks LD, Davies PM, Simmonds AH, Leonard N. The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in healthy control population and females at risk. Clin Chim Acta 1994;224:45-54.
21. Wooley EM, Wifion RW, Hepler LG. Thermodynamics of proton dissociations from imidazolium ion, 6-uracilcarboxylic acid and protonated hypoxanthine in aqueous solution. Can J Chem 1970;48:3249-3252.