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.
Year introduced: 2008
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Subheadings:
Tree Number(s): C16.320.565.798.183, C18.452.648.798.183
MeSH Unique ID: D054067
Entry Terms:
- Deficiencies, Dihydropyrimidine Dehydrogenase
- Deficiency, Dihydropyrimidine Dehydrogenase
- Dehydrogenase Deficiencies, Dihydropyrimidine
- Dehydrogenase Deficiency, Dihydropyrimidine
- Dihydropyrimidine Dehydrogenase Deficiencies
- Pyrimidinemia, Familial
- Thymine-Uraciluria, Hereditary
- Hereditary Thymine-Uracilurias
- Thymine Uraciluria, Hereditary
- Thymine-Uracilurias, Hereditary
- Familial Pyrimidinemia
- Familial Pyrimidinemias
- Pyrimidinemias, Familial
- Hereditary Thymine-Uraciluria
- Hereditary Thymine Uraciluria
- DPD Deficiency
- Deficiencies, DPD
- Deficiency, DPD
- DPD Deficiencies
- Familial Pyrimidemia
- Familial Pyrimidemias
- Pyrimidemia, Familial
- Pyrimidemias, Familial
- Dihydropyrimidinuria
- Dihydropyrimidinurias
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