Question 1 · Medium
A patient develops severe mucositis, diarrhoea and neutropenia after the first cycle of fluorouracil. Which deficiency is the most likely explanation?
- APseudocholinesterase deficiency
- BThiopurine methyltransferase deficiency
- CG6PD deficiency
- DDihydropyrimidine dehydrogenase deficiency
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Answer: D · Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase breaks down most of a fluorouracil dose. Without it, drug levels stay high and cause severe early toxicity, and the dose is reduced or the drug avoided after testing. Uridine triacetate is the antidote.
- A: Pseudocholinesterase deficiency prolongs suxamethonium.
- B: Thiopurine methyltransferase deficiency affects mercaptopurine.
- C: G6PD deficiency causes haemolysis with oxidant drugs.
Remember this
Severe early fluorouracil or capecitabine toxicity suggests DPD deficiency.