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Dihydropyrimidine Dehydrogenase Gene Mutation

Dihydropyrimidine dehydrogenase (DPD) is an enzyme involved in the degradation of the nucleic acid pyrimidine bases, uracil and thymine. DPD deficiency results in impaired pyrimidine metabolism. This defieciency has autosomal recessive inheritance and is more common among African-Americans than it is among Caucasians. Approximately 8% of the population has at least partial DPD deficiency.

DPD also breaks down pyrimidine-based chemotherapeutic agents such as 5-fluorouracil (5-FU) and capecitabine.  Cancer patients with DPD deficiency may develop severe myelosuppression or life-threatening toxicity.

There are three known mutations of the DPD gene that cause DPD deficiency; IVS14+1G>A, D949V and 1560S.  IVS14+1G>A mutation accounts for approximately 50% of DPD deficiency alleles. These mutations are detected by polymerase chain reaction (PCR) amplification of a portion of the DPD gene and DNA sequencing.

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