Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an inherited disorder caused by a deficiency of the enzyme dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down certain molecules called pyrimidines, which are found in many foods. Without enough DPD, these molecules build up in the body and can cause a variety of symptoms, including nausea, vomiting, abdominal pain, and fatigue. DPD deficiency can also lead to an increased risk of certain types of cancer, such as colorectal cancer. Treatment for DPD deficiency typically involves dietary changes and medications to reduce the levels of pyrimidines in the body.

The symptoms of Dihydropyrimidine dehydrogenase deficiency can vary from person to person, but may include:

-Severe fatigue
-Nausea and vomiting
-Abdominal pain
-Loss of appetite
-Weight loss
-Jaundice
-Neurological problems such as seizures, ataxia, and mental retardation
-Developmental delays
-Skin rashes
-Frequent infections
-Liver and kidney problems
-High levels of ammonia in the blood

Dihydropyrimidine dehydrogenase (DPD) deficiency is caused by mutations in the DPYD gene. These mutations can be inherited from a parent or can occur spontaneously. In some cases, the cause of the mutation is unknown.

1. Dietary modifications: Avoiding foods high in pyrimidines, such as fish, poultry, and eggs, may help reduce symptoms.

2. Medications: Certain medications, such as 5-fluorouracil, may be used to reduce the amount of pyrimidines in the body.

3. Vitamin supplementation: Taking folinic acid or other B vitamins may help reduce symptoms.

4. Gene therapy: Researchers are exploring the potential of gene therapy to treat DPD deficiency.

5. Enzyme replacement therapy: This involves replacing the missing enzyme with a synthetic version.

1. Genetic mutation: Dihydropyrimidine dehydrogenase deficiency is caused by a genetic mutation in the DPYD gene.

2. Family history: People with a family history of the condition are more likely to develop it.

3. Ethnicity: People of certain ethnic backgrounds, such as Ashkenazi Jews, are more likely to have the condition.

4. Age: The condition is more common in infants and young children.

At this time, there is no cure for Dihydropyrimidine dehydrogenase deficiency. However, there are medications that can help manage the symptoms of the condition. These medications include 5-fluorouracil, capecitabine, and tegafur. Additionally, dietary modifications may be recommended to reduce the amount of pyrimidine in the diet.