Dihydropyrimidinuria (DHP) is an inherited disorder caused by a deficiency of the enzyme dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down the amino acid pyrimidine, which is found in proteins. People with DHP have an inability to break down pyrimidine, leading to an accumulation of pyrimidine in the body. Symptoms of DHP can include seizures, mental retardation, and developmental delays.

The symptoms of Dihydropyrimidinuria (DHP) vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Growth retardation
-Feeding difficulties
-Vomiting
-Diarrhea
-Abdominal pain
-Hyperactivity
-Behavioral problems
-Poor muscle tone
-Frequent infections
-Kidney stones
-Frequent urination
-Dehydration
-High levels of ammonia in the blood
-High levels of uric acid in the blood
-High levels of lactic acid in the blood
-High levels of calcium in the urine

Dihydropyrimidinuria (DHP) is a rare inherited disorder caused by a genetic mutation in the DPYS gene. This gene is responsible for the production of an enzyme called dihydropyrimidine dehydrogenase (DPD), which is responsible for breaking down certain molecules called pyrimidines. When the DPYS gene is mutated, the body is unable to produce enough DPD, leading to a buildup of pyrimidines in the body. This can cause a variety of symptoms, including intellectual disability, seizures, and movement disorders.

The primary treatment for dihydropyrimidinuria is dietary management. This involves avoiding foods that are high in pyrimidines, such as milk, cheese, and eggs. Additionally, supplementation with folinic acid and thiamine may be recommended. In some cases, medications such as 5-fluorouracil or hydroxyurea may be prescribed to reduce the levels of pyrimidines in the body. In severe cases, hemodialysis may be necessary.

1. Genetic predisposition: Dihydropyrimidinuria is an inherited disorder caused by mutations in the DPYS gene.

2. Age: Dihydropyrimidinuria is more common in children and adolescents.

3. Gender: Dihydropyrimidinuria is more common in males than females.

4. Ethnicity: Dihydropyrimidinuria is more common in people of European descent.

5. Diet: A diet high in pyrimidines, such as those found in some meats, may increase the risk of developing Dihydropyrimidinuria.

Yes, there is a medication called pyrimethamine that can be used to treat dihydropyrimidinuria. It is usually taken in combination with other medications, such as folinic acid and leucovorin, to reduce the risk of side effects. Additionally, dietary changes, such as avoiding foods high in pyrimidine, can help reduce symptoms.