Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G→A point mutation

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 280-284

  Van Kuilenburg, A B P ^a,c   Vreken, P ^a   Beex, L V A M ^b   De Abreu, R A ^b   Van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL;

ADULT; BREAST CANCER; CANCER PATIENT; CARDIOTOXICITY; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GASTROINTESTINAL SYMPTOM; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERPIGMENTATION; INTRAVENOUS DRUG ADMINISTRATION; LEUKOCYTE; LEUKOPENIA; POINT MUTATION; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0031903129     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005384609289     Document Type: Conference Paper

References (17)

1. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159.
2. Fernandez-Salguero P, Gonzalez, FJ, Etienne MC, Milano G, Kimura S (1995) Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes. Biochem Pharmacol 50: 1015-1020.
3. Freeman NJ, Costanza ME (1988) 5-Fluorouracil-associated cardiotoxicity. Cancer 61: 36-45.
4. Hoar DI (1987) Molecular diagnosis: new horizons in medicine. Can Fam Physician 33: 401-404.
5. Keefe DL, Roistacher N, Pierri MK (1993) Clinical cardiotoxicity of 5-fluorouracil. J Clin Pharmacol 33: 1060-1070.
6. Lu Z, Zhang R, Diasio RB (1993) Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 53: 5433-5438.
7. Meinsma R, Fernandez-Salguero P, Van Kuilenburg ABP, Van Gennip AH, Gonzalez FJ (1995) Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria. DNA Cell Biol 14: 1-6.
8. Naguib FNM, el Kouni MH, Cha S (1985) Enzymes of uracil catabolism in normal and neoplastic human tissues. Cancer Res 45: 5405-5412.
9. Perlin E, Ahlgren JD (1991) Pigmentary effects from the protracted infusion of 5-fluorouracil. Int J Dermatol 30: 43-44.
10. Van Gennip AH, Busch S, Elzinga L, et al (1993) Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39: 380-385.
11. Van Gennip AH, Abeling NGGM, Stroomer AEM, Van Lenthe H, Bakker HD (1994) Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inher Metab Dis 17: 130-132.
12. Van Gennip AH, Abeling NGGM, Vreken P, Van Kuilenburg ABP (1997) Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inher Metab Dis 20: 203-213.
13. Van Kuilenburg ABP, Van Lenthe H, Van Gennip AH (1996) Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man. Anticancer Res 16: 389-394.
14. Van Kuilenburg ABP, Van Lenthe H, Wanders RJA, Van Gennip AH (1997a) Subcellular localization of dihydropyrimidine dehydrogenase. Biol Chem 378: 1047-1053.
15. Van Kuilenburg ABP, Van Lenthe H, Wanders RJA, Van Gennip AH (1997b) Subcellular localization of dihydropyrimidine dehydrogenase. Adv Exp Med Biol, in press.
16. Van Kuilenburg ABP, Blom MJ, Van Lenthe H, Mul E, Van Gennip AH (1997c) The activity of dihydropyrimidine dehydrogenase in human blood cells. J Inher Metab Dis 20: 331-334.
17. Vreken P, Van Kuilenburg ABP, Meinsma R, et al (1996) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inher Metab Dis 19: 645-654.