Skip to main content
Log in

Allopurinol challenge test in children

  • Published:
Journal of Inherited Metabolic Disease

Summary

The allopurinol challenge test was performed on 44 healthy subjects (28 children and 16 adolescents) in order to establish normal values of urinary orotic acid excretion following allopurinol ingestion in the paediatric population. The subjects were divided into three groups according to their age: 6 months to 6 years; 6 years to 10 years; and 10 years to 17 years. They were given 100 mg, 200 mg, or 300 mg of allopurinol, respectively (based on age) in a single oral dose. Maximum peak urinary orotic acid levels following ingestion of allopurinol were 13.0 (n=14), 9.3 (n=14), and 10.2 (n=16) µmol/mmol creatinine in the three groups, respectively. In all children tested the peak orotic acid level was 3.1±2.7 µmol/mmol creatinine (mean ± SD,n=44). This allopurinol challenge test was also performed in six children with ureacycle disorders, including five females with ornithine transcarbamylase (OTC) deficiency, all of whom demonstrated abnormally elevated levels of urinary orotic acid (peak levels of 26–134 µmol/mmol creatinine) following allopurinol ingestion.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bachmann C, Colombo JP (1980). Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.Eur J Pediatr 134: 109–113.

    Google Scholar 

  • Becroft DMO, Barry, DMJ, Webster DR, Simmonds HA (1984). Failure of protein loading tests to identify heterozygosity for ornithine carbamyltransferase deficiency.J Inher Metab Dis 7: 157–159.

    Google Scholar 

  • Cohen A, Staal GEJ, Ammann AJ, Martin DW Jr (1977). Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.J Clin Invest 60: 491–494.

    Google Scholar 

  • Ferrari V, Giordano G, Gracco AT, Dussini N, Chiandetti L, Zacchello F (1989). Determination of urinary orotate excretion by high-performance liquid chromatography.J Chromatogr 497: 101–107.

    Google Scholar 

  • Fox RM, Royse-Smith D, O'Sullivan WJ (1970). Orotidinuria induced by allopurinol.Science 168: 861–862.

    Google Scholar 

  • Harris ML, Oberholzer VG (1980). Conditions affecting the colorimetry of orotic acid and orotidine in urine.Clin Chem 26: 473–479.

    Google Scholar 

  • Hauser ER, Finkelstein JE, Valle D, Brusilow SW (1990). Allopurinol-induced orotindinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.N Engl J Med 322: 1641–1645.

    Google Scholar 

  • Hawk PB, Oser BL, Summerson WH (eds) (1947).Practical Physiological Chemistry. Philadelphia: Blakiston, 115–120.

    Google Scholar 

  • Hokanson JT, O'Brien WE, Idemoto J, Schafer IA (1978). Carrier detection in ornithine transcarbamylase deficiency.J Pediatr 93: 75–78.

    Google Scholar 

  • Rajantie J (1981). Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates.Pediatr Res 15: 115–119.

    Google Scholar 

  • Saudubray JM, Ogier H (1990). Clinical approach to inherited metabolic diseases. In Fernandes J, Saudubray JM, Tada K, eds.Inborn Metabolic Diseases, Diagnosis and Treatment. Berlin: Springer-Verlag, 3–25.

    Google Scholar 

  • Simell O, Mackenzie S, Clow CL, Scriver CR (1985). Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.Pediatr Res 19: 1283–1287.

    Google Scholar 

  • Suttle DP, Becroft DMO, Webster DR (1989). Hereditary orotic aciduria and other disorders of pyrimidine metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1095–1126.

    Google Scholar 

  • Tuchman M, Knopman DS, Shih VE (1990). Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.Arch Neurol 47: 1134–1137.

    Google Scholar 

  • Wood MH, O'Sullivan WJ (1973). The orotic aciduria of pregnancy.Am J Obstet Gynecol 116: 57–61.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Burlina, A.B., Ferrari, V., Dionisi-Vici, C. et al. Allopurinol challenge test in children. J Inherit Metab Dis 15, 707–712 (1992). https://doi.org/10.1007/BF01800010

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01800010

Keywords

Navigation