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Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity.


ABSTRACT: 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.

SUBMITTER: Fidai SS 

PROVIDER: S-EPMC6360833 | biostudies-literature | 2018 Oct-Dec

REPOSITORIES: biostudies-literature

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Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity.

Fidai Shiraz S SS   Sharma Aarti E AE   Johnson Daniel N DN   Segal Jeremy P JP   Lastra Ricardo R RR  

Autopsy & case reports 20181001 4


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 unk  ...[more]

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