Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase (DPD) deficiency is an inherited disease of variable severity that is typically characterized by the presence of childhood-onset neurological problems. DPD deficiency involves defects in making the enzyme dihydropyrimidine dehydrogenase that is needed to break down uracil and thymine (two of the basic building blocks of RNA and DNA). Symptoms associated with DPD deficiency are a result of the toxic build-up of uracil and thymine in the body. DPD deficiency is also known as dihydropyrimidinuria and familial pyrimidemia. View testing options