Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency

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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.

Original languageEnglish (US)
Pages (from-to)543-545
Number of pages3
JournalSouthern medical journal
Volume101
Issue number5
DOIs
StatePublished - May 1 2008

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Keywords

  • Chemotherapy
  • Hepatocellular carcinoma
  • Hyperammonemia
  • Ornithine transcarbamoylase deficiency

ASJC Scopus subject areas

  • Medicine(all)

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