Clinical and Biochemical Abnormalities in a Patient With Dihydropyrimidine Dehydrogenase Deficiency Due to Homozygosity for the C29R Mutation

J Inherit Metab Dis. 1999 Apr;22(2):191-2. doi: 10.1023/a:1005470524203.

Publication types

  • Case Reports

MeSH terms

  • Arginine / genetics
  • Child, Preschool
  • Cysteine / genetics
  • Dihydrouracil Dehydrogenase (NADP)
  • Humans
  • Male
  • Mutation, Missense*
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics*
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics

Substances

  • Arginine
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)
  • Cysteine