Dihydropyrimidine Dehydrogenase Deficiency

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.

Also Known As:

DPD Deficiency; Dihydropyrimidinuria; Familial Pyrimidemia; Familial Pyrimidinemia; Hereditary Thymine-Uraciluria; Pyrimidinemia, Familial; Thymine-Uraciluria, Hereditary; DPD Deficiencies; Deficiencies, DPD; Deficiencies, Dihydropyrimidine Dehydrogenase; Deficiency, DPD; Deficiency, Dihydropyrimidine Dehydrogenase; Dehydrogenase Deficiencies, Dihydropyrimidine; Dehydrogenase Deficiency, Dihydropyrimidine; Dihydropyrimidine Dehydrogenase Deficiencies; Dihydropyrimidinurias; Familial Pyrimidemias; Familial Pyrimidinemias; Hereditary Thymine Uraciluria; Hereditary Thymine-Uracilurias; Pyrimidemia, Familial; Pyrimidemias, Familial; Pyrimidinemias, Familial; Thymine Uraciluria, Hereditary; Thymine-Uracilurias, Hereditary

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Dihydropyrimidine Dehydrogenase Deficiency: 290
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Dihydropyrimidine Dehydrogenase Deficiency: 290

M López Sobella Selected Research

M López Sobella Research Topics

Disease

Drug/Important Bio-Agent (IBA)