Abstract
Dihydropyrimidine dehydrogenase (DHPDH) deficiency has a seizure as a common symptom among the reported cases. The other symptoms are nental retardation, hair abnormalities and so on. No major symptom exists for DHPDH deficiency. On the other hand, relationship between epilepsy and metabolic disorder is still obscure. For the purpose of finding more patients with DHPDH deficiency. we developed a screening method for DHPDH deficiency.
We applied a colorimetric determination method for urinary uracil detection. This method is not so complicated and less time consuming as previous methods such as thin layer chromatography. With this method, it is possible to detect at least 20 mg/dl of uracil, which is sensitive enough for the screening for DHPDH deficiency. Interfering substances in urine are negligible including drugs and foods. Addition of albumin to normal urine dose not affect the result but proteinuria results in false positive.
We screened urine from 83 epileptic children with this method, but could not find any patients.
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Okajima, K., Yamamoto, T., Suchi, M. et al. 104 A SCREENING METHOD FOR DIHYDROPYRIMIDINE DEHYDROCENASE DEFICIENCY WITH COLORIMETRIC DETECTION OF URINARY URACIL. Pediatr Res 24, 128 (1988). https://doi.org/10.1203/00006450-198807000-00128
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DOI: https://doi.org/10.1203/00006450-198807000-00128