Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria

J Inherit Metab Dis. 1995;18(2):185-8. doi: 10.1007/BF00711762.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Dihydrouracil Dehydrogenase (NADP)
  • Fibroblasts / enzymology
  • Heterozygote
  • Humans
  • Leukocytes / enzymology
  • Male
  • NAD / metabolism*
  • NADP / metabolism*
  • Oxidoreductases / metabolism*
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics
  • Thymine / biosynthesis
  • Thymine / urine*
  • Uracil / biosynthesis
  • Uracil / urine*

Substances

  • NAD
  • NADP
  • Uracil
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)
  • Thymine