Familial Pyrimidinemia and Pyrimidinuria Associated with Severe Fluorouracil Toxicity

Abstract

RAPIDLY growing tumor cells depend on a high rate of pyrimidine synthesis for the generation of RNA and DNA. Fluorouracil is a pyrimidine-base analogue that acts as an antimetabolite to block the synthesis of deoxythymidylic acid and to disrupt normal RNA function.^{1 , 2} This compound is frequently employed in combination with other chemotherapeutic drugs for the therapy of certain solid tumors, such as cancers of the breast, ovary, and gastrointestinal tract.^{3 4 5} The toxicity of fluorouracil can be severe and includes bone marrow suppression, mucosal ulceration, diarrhea, and less frequently, somnolence, upper motor-neuron signs, reversible cerebellar ataxia, and reversible symptoms like those . . .