Last update 21 Mar 2024

Dihydropyrimidine Dehydrogenase Deficiency

Basic Info

Synonyms
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, DPD - dihydropyrimidine dehydrogenase deficiency, DPD DEFICIENCY
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Introduction
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.

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