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.


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.