Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity
Keywords:Dihydropyrimidine Dehydrogenase Deficiency, Drug-Related Side Effects and Adverse Reactions, Genetic Testing; Fluorouracil, Pancytopenia
5-Fluorouracil (5-FU), in combination with other cytotoxic drugs, is commonly used to treat a variety of cancers. Dihydropyrimidine dehydrogenase (DPD) catalyzes the first catabolic step of the 5-FU degradation pathway, converting 80% of 5-FU to its inactive metabolite. Approximately 0.3% of the population demonstrate complete DPD deficiency, translating to extreme toxicity of 5-FU. Here we present a case of a patient who had a fatal outcome after treatment with 5-FU who was found to have an unknown DPD deficiency discovered at autopsy.
How to Cite
Copyright and publishing license
Authors retain copyright granting the journal right of first publication with the work simultaneously licensed under the Creative Commons Attribution Non-Commercial License.
Autopsy and Case Reports accepted articles are published under the Creative Commons Attribution Non-Commercial License. Under this License, the authors agree to have the CC-BY-NC license applied to their work, which retains the author's ownership of the copyright for their article and permits unrestricted non-commercial use, distribution, and reproduction in any medium provided the original authors and source are properly cited. This facilitates freedom in re-use and also ensures that the journal's content can be mined without barriers for the needs of research.