Familial Pyrimidinemia and Pyrimidinuria Associated with Severe Fluorouracil Toxicity

作者：Mendel Tuchman, Joel S. Stoeckeler, David T. Kiang, Robert F. OʼDea, Margaret L. R. Ramnaraine, Bernard L. Mirkin · 发表于：New England Journal of Medicine · 年份：1985 · DOI：10.1056/nejm198507253130407 · 被引用次数：250 · 研究领域：Mycobacterium research and diagnosis、Biochemical and Molecular Research、Colorectal Cancer Treatments and Studies

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 . . .