Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency

Urea cycle disorders (UCDs) are an unusual genetic condition that may lead to hyperammonemia in catabolic situations such as surgery, infections or chemotherapy administration. Without specific treatment, it causes life-threatening encephalopathy. We present the case of a young woman, heterozygous carrier of ornithine transcarbamylase deficiency (OTCD) with breast cancer, who was treated with surgery, chemotherapy, radiotherapy and hormone therapy while following a protocol to minimize the risk of metabolic decompensation due to her condition.

Keywords: breast cancer; chemotherapy; ornithine transcarbamylase deficiency; urea cycle deficiency.