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What are the symptoms of DPD deficiency?

Published in Medical Conditions 2 mins read

DPD deficiency, or dihydropyridine dehydrogenase deficiency, is a rare genetic disorder that affects the body's ability to break down certain medications. This can lead to a buildup of these medications in the body, which can cause various symptoms.

Common Symptoms of DPD Deficiency:

  • Severe side effects from certain medications: Individuals with DPD deficiency may experience severe side effects from medications that are typically safe for others. These medications often belong to the pyrimidine class, including:
    • Fluorouracil (5-FU): Used to treat cancer.
    • Capecitabine: Used to treat cancer.
    • Azathioprine: Used to suppress the immune system.
    • Mercaptopurine: Used to treat leukemia and Crohn's disease.
  • Nausea and vomiting: These are common side effects of many medications, but they can be more severe and persistent in individuals with DPD deficiency.
  • Diarrhea: This can be a symptom of medication buildup.
  • Mouth sores: These can be a sign of toxicity from certain medications.
  • Hair loss: This can be a side effect of some cancer medications.
  • Fatigue: This can be a symptom of medication toxicity.

Diagnosis and Treatment:

Diagnosing DPD deficiency requires genetic testing to identify the specific gene mutation responsible for the condition. Treatment typically involves avoiding medications that are metabolized by DPD or using lower doses of these medications.

It's important to note that DPD deficiency is a complex condition and the severity of symptoms can vary greatly from person to person. If you have any concerns about DPD deficiency, it's important to consult with a healthcare professional.

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