A Screening Method for Dihydropyrimidine Dehydrogenase Deficiency with Colorimetric Detection of Urinary Uracil

  • Kazuki Okajima
  • Takaharu Yamamoto
  • Mariko Suchi
  • Yoshiro Wada
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)


Dihydropyrimidine dehydrogenase deficiency has a neurological involvement as a common symptom among reported cases. No major symptom except that exists for DHPDH deficiency. On the other hand, relationship between neurological involvement and metabolic disorder is still obscure, For the purpose of looking for more patients with DHPDH deficiency, a screening method for DHPDH deficiency-is introduced.

Urinary uracil was determined colorimetrically. This method is not so complicated and less time consuming as previous method such as liquid chromatography. With this method, it is possible to detect about 1 mmol/l (12 mg/dl) of uracil, which is sensitive enough for the screening for DHPDH deficiency. Interfering substance in urine were negligible. Addition of albumin to normal urine dose not affect the result but proteinuria results in false positive.

The urine from 83 epileptic children were screened with this method, but no patients were found.


Neurological Involvement Phosphomolybdic Acid Pyrimidine Metabolism Epileptic Child Adenine Phosphoribosyltransferase 
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  1. 1.
    Edwards NL and Fox IH, Special Topics in Endocrinology and Metabolism 6: 95–140, 1984PubMedGoogle Scholar
  2. 2.
    Wadman SK in Advances in Experimental Medicine and Biology 165A: 109–114, 1984Google Scholar
  3. 3.
    Wheeler HL and Johnson TB J Biol Chem 3: 183–189, 1907Google Scholar
  4. 4.
    Soodak M, Pircio A and Cerecedo LR J Biol Chem 181: 713–718, 1949PubMedGoogle Scholar
  5. 5.
    Arakawa T, Wada Y, Hayashi T, Kakizaki R, Chida N, Chiba R, Konno T and Shiroura H Tohoku J Exp Med 87: 52–76, 1965Google Scholar
  6. 6.
    Bakkeren JAJM, DeAbrau RA, Sengers RCA, Gabreels FJM, Maas JM and Reiner WO Clinica Chemica Acta 140: 247–256, 1984CrossRefGoogle Scholar
  7. 7.
    Jaeken J and van den Burgue G lancet ii: 1058–1061, 1984Google Scholar
  8. 8.
    Berger R, Vries SAS, Wadman SK, Duran M, Beemer FA, de Bree PK, Weits-Binnerls JJ, Penders TJ and van den Woude JK Clinica Chemica Acta 141: 227–234, 1984CrossRefGoogle Scholar
  9. 9.
    Wadman SK, Berger R, Duran M, de Bree PK, Stoker-deVries SA and Beemer FA, J Inher Metab Dis 8 suppl 2 113–114, 1985CrossRefGoogle Scholar
  10. 10.
    Wilcken B and Hammond J J Inher Metab Dis 8 suppl 2 115–116, 1985CrossRefGoogle Scholar
  11. 11.
    van Gennip AH et al in abstract of 25th SSIEM (Sheffield United Kingdom)Google Scholar
  12. 12.
    Tuchman M, Stoeckeler JS. Kiang DT, O’Dea RF, Ramnaraine ML and Mirkin BL New Engl J Med 313: 245–249, 1985PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Kazuki Okajima
    • 1
  • Takaharu Yamamoto
    • 1
  • Mariko Suchi
    • 1
  • Yoshiro Wada
    • 1
  1. 1.Department of PediatricsNagoya City University Medical SchoolMizuho Nagoya 467Japan

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