Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.

@article{Sumi1998PopulationAF,
  title={Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.},
  author={Satoshi Sumi and Masayuki Imaeda and Kiyoshi Kidouchi and Shigeyoshi Ohba and Nobuyuki Hamajima and Kazunori Kodama and Hajime Togari and Yoshinao Wada},
  journal={American journal of medical genetics},
  year={1998},
  volume={78 4},
  pages={336-40}
}
To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and found two cases of DHPuria without clinical symptoms. Based on this result, we estimated the prevalence to be approximately 1/10,000 births in Japan. In addition, we analyzed pyrimidine catabolism on a previously reported family with an adult DHPuria case. We newly identified the sister of the propositus as the second case of DHPuria in this family, because she… CONTINUE READING

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