DPD deficiency

Having a deficiency in the DPD enzyme could make the side effects of certain chemotherapy drugs worse. For some people, these side effects can be life threatening. This group of drugs are called fluoropyrimidines. Examples include 5-fluorouracil (5FU) and capecitabine.

What is DPD deficiency?

DPD stands for dihydropyrimidine dehydrogenase. It is an enzyme Open a glossary item the liver makes that helps the body break down thymine and uracil. Thymine and uracil make up part of the structure of our genes Open a glossary item. Uracil is also an important part of the drugs 5FU and capecitabine.

DPD deficiency happens when we have low or no levels of the DPD enzyme. The cause of this is usually changes (mutations Open a glossary item) in the DPYD gene.

It is very rare to have no DPD in the body (a complete DPD deficiency), but it is more common to have low or very low levels (a partial deficiency). Between 2 and 8 out of every 100 people (2 to 8%) have a partial DPD deficiency.

A partial DPD deficiency doesn’t usually cause symptoms. This means you don’t usually know that you have the deficiency unless you have 5FU or capecitabine.

People with severe or complete DPD deficiency usually start to have symptoms as babies. They might have:

  • fits (seizures)
  • a small head size (microcephaly)
  • problems with their development, such as walking and talking

DPD deficiency and the side effects of capecitabine and 5FU

The DPD enzyme helps our body to break down fluorouracil (5FU) and capecitabine (also known as Xeloda). Fluorouracil (5FU) and capecitabine are two common chemotherapy drugs. They are used as a treatment for several different cancers, including:

  • breast
  • bowel
  • head and neck
  • stomach
  • back passage (anus)
  • bile duct
  • pancreas
  • neuroendocrine tumours or neoplasms

Without enough DPD enzyme, these chemotherapy drugs build up in the body and cause more severe side effects than usual. In some situations, these side effects can be life threatening. The side effects include:

  • a drop in the level of blood cells increasing your risk of infections, breathlessness, and bleeding
  • diarrhoea which can be severe
  • a sore mouth
  • feeling or being sick which can cause dehydration
  • soreness, redness and peeling on palms and soles of feet

Between 20 and 30 out of every 100 people (20 and 30%) have severe side effects from 5FU and capecitabine. Less than 1 in every 100 people (less than 1%) who have 5FU and capecitabine die from their treatment. But not everyone has a DPD deficiency. So, it is important to speak with your doctor about your side effects. 

So far, research has shown that people with DPD deficiency usually develop severe side effects to 5FU or capecitabine within the first 2 treatment cycles. 

Is there a test to check for DPD deficiency?

All people having 5FU or capecitabine should have a blood test before their treatment to check if they have a DPD deficiency.

Research into DPD deficiency testing

Doctors and scientists are looking at learning more about DPYD.

Research looking into the DPYD gene

Researchers are looking into using genetic information to help personalise chemotherapy. They are looking at the dose of chemotherapy and how to reduce common side effects. In the study, they will collect genetic information. In this study, they look at how the differences in our genes can affect our unique response to medications. The study includes looking at the DPYD gene.

  • UK Guidance Published on DPD Testing
    UKONS Oncology Nursing Society, July 2020

  • DPYD and Fluorouracil-Based Chemotherapy: Mini Review and Case Report
    TJ Wigle and others
    Pharmaceutics, 2019. Volume 11, Issue 5

  • Dihydropyrimidine dehydrogenase deficiency

    National Center for Advancing Translational Sciences

    Accessed July 2023 

  • Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy

    R Diasio and S Offer

    Cancers (Basel), 2022 June 30. Volume 14, Issue 13, Page: 3207

  • All You Need to Know About DPYD Genetic Testing for Patients Treated With Fluorouracil and Capecitabine: A Practitioner-Friendly Guide

    F Innocenti and others

    JCO Oncology Practice, 2020 December 1. Volume 16, Issue 12, Pages: 793 to 798

  • ClinicalTrials.gov

    Accessed July 2023

  • The information on this page is based on literature searches and specialist checking. We used many references and there are too many to list here. Please contact patientinformation@cancer.org.uk with details of the particular issue you are interested in if you need additional references for this information.

Last reviewed: 
11 Jul 2023
Next review due: 
11 Jul 2026

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