• Joseph S Chan, Cary O Harding, and Charles D Blanke.
• Division of Hematology and Medical Oncology and Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
• South. Med. J. 2008 May 1;101(5):543-5.

AbstractA young patient with hepatocellular carcinoma receiving chemotherapy presented with encephalopathy. Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. The evaluation yielded a plasma amino acid analysis consistent with OTC deficiency. However, genetic analysis did not reveal a somatic mutation of the OTC gene in this patient. The hyperammonemic encephalopathy was reversed by the infusion of arginine, a common treatment for hereditary OTC deficiency. This case may represent a distinct syndrome of reversible hyperammonemia in patients with hepatocellular carcinoma.

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