Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G-->A point mutation.
van Kuilenburg
A B
AB
Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry, The Netherlands.
Vreken
P
P
Beex
L V
LV
De Abreu
R A
RA
van Gennip
A H
AH
D000225:Adenine; D000964:Antimetabolites, Antineoplastic / Q000009:adverse effects* / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D002478:Cells, Cultured; D042943:Dihydrouracil Dehydrogenase (NADP); D005260:Female; D005472:Fluorouracil / Q000009:adverse effects* / Q000627:therapeutic use; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D008875:Middle Aged; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014158:Transcription, Genetic
D000964:Antimetabolites, Antineoplastic; D006147:Guanine; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000225:Adenine; D005472:Fluorouracil