Dihydropyrimidine Dehydrogenase Deficiency

Synonyms

DPD Deficiencies

DPD Deficiency

Deficiencies, DPD

Deficiencies, Dihydropyrimidine Dehydrogenase

Deficiency, DPD

Deficiency, Dihydropyrimidine Dehydrogenase

Dehydrogenase Deficiencies, Dihydropyrimidine

Dehydrogenase Deficiency, Dihydropyrimidine

Dihydropyrimidine Dehydrogenase Deficiencies

Dihydropyrimidinuria

Dihydropyrimidinurias

Familial Pyrimidemia

Familial Pyrimidemias

Familial Pyrimidinemia

Familial Pyrimidinemias

Hereditary Thymine Uraciluria

Hereditary Thymine-Uraciluria

Hereditary Thymine-Uracilurias

Pyrimidemia, Familial

Pyrimidemias, Familial

Pyrimidinemia, Familial

Pyrimidinemias, Familial

Thymine Uraciluria, Hereditary

Thymine-Uraciluria, Hereditary

Thymine-Uracilurias, Hereditary

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.