Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alanine / urine
  • Amidohydrolases / deficiency*
  • Chromatography, High Pressure Liquid
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Liver / metabolism
  • Male
  • Neutrophils / metabolism
  • Purine-Pyrimidine Metabolism, Inborn Errors / urine*
  • Spectrophotometry, Ultraviolet
  • Uracil / analogs & derivatives
  • Uracil / urine

Substances

  • dihydrouracil
  • Uracil
  • Amidohydrolases
  • dihydropyrimidinase
  • Alanine