Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
van Gennip
A H
AH
Academic Medical Center, Department of Paediatrics, Amsterdam, The Netherlands.
van Lenthe
H
H
Abeling
N G
NG
Bakker
H D
HD
van Kuilenburg
A B
AB
D002675:Child, Preschool; D042943:Dihydrouracil Dehydrogenase (NADP); D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009243:NAD / Q000378:metabolism*; D009249:NADP / Q000378:metabolism*; D010088:Oxidoreductases / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D013941:Thymine / Q000096:biosynthesis / Q000652:urine*; D014498:Uracil / Q000096:biosynthesis / Q000652:urine*
D009243:NAD; D009249:NADP; D014498:Uracil; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D013941:Thymine