Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency

Southern Medical Journal
Joseph S ChanCharles D Blanke

Abstract

A 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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Citations

Oct 6, 2010·The American Journal of Medicine·Jamie Nicole LaBuzettaJustin Zivin
Aug 20, 2019·Clinical and Molecular Hepatology·Nimish Thakral, Douglas A Simonetto
Jan 1, 2016·Expert Review of Endocrinology & Metabolism·Cristel C Chapel-CrespoKimihiko Oishi

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