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.

Descriptor ID	D054067
MeSH Number(s)	C16.320.565.798.183 C18.452.648.798.183
Concept/Terms	Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidine Dehydrogenase Deficiency 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 Hereditary Thymine-Uraciluria Hereditary Thymine Uraciluria DPD Deficiency DPD Deficiencies Deficiencies, DPD Deficiency, DPD Familial Pyrimidinemia Familial Pyrimidinemias Pyrimidinemias, Familial Familial Pyrimidemia Familial Pyrimidemias Pyrimidemia, Familial Pyrimidemias, Familial Dihydropyrimidinuria Dihydropyrimidinuria Dihydropyrimidinurias

Below are MeSH descriptors whose meaning is more general than "Dihydropyrimidine Dehydrogenase Deficiency".

Below are MeSH descriptors whose meaning is related to "Dihydropyrimidine Dehydrogenase Deficiency".

Below are MeSH descriptors whose meaning is more specific than "Dihydropyrimidine Dehydrogenase Deficiency".