Summary
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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Edwards NL and Fox IH, Special Topics in Endocrinology and Metabolism 6: 95–140, 1984
Wadman SK in Advances in Experimental Medicine and Biology 165A: 109–114, 1984
Wheeler HL and Johnson TB J Biol Chem 3: 183–189, 1907
Soodak M, Pircio A and Cerecedo LR J Biol Chem 181: 713–718, 1949
Arakawa T, Wada Y, Hayashi T, Kakizaki R, Chida N, Chiba R, Konno T and Shiroura H Tohoku J Exp Med 87: 52–76, 1965
Bakkeren JAJM, DeAbrau RA, Sengers RCA, Gabreels FJM, Maas JM and Reiner WO Clinica Chemica Acta 140: 247–256, 1984
Jaeken J and van den Burgue G lancet ii: 1058–1061, 1984
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, 1984
Wadman SK, Berger R, Duran M, de Bree PK, Stoker-deVries SA and Beemer FA, J Inher Metab Dis 8 suppl 2 113–114, 1985
Wilcken B and Hammond J J Inher Metab Dis 8 suppl 2 115–116, 1985
van Gennip AH et al in abstract of 25th SSIEM (Sheffield United Kingdom)
Tuchman M, Stoeckeler JS. Kiang DT, O’Dea RF, Ramnaraine ML and Mirkin BL New Engl J Med 313: 245–249, 1985
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1989 Plenum Press, New York
About this chapter
Cite this chapter
Okajima, K., Yamamoto, T., Suchi, M., Wada, Y. (1989). A Screening Method for Dihydropyrimidine Dehydrogenase Deficiency with Colorimetric Detection of Urinary Uracil. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_18
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5673-8_18
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5675-2
Online ISBN: 978-1-4684-5673-8
eBook Packages: Springer Book Archive