Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency

Joseph S. Chan, Cary Harding, Charles Blanke

Research output: Contribution to journalArticle

11 Citations (Scopus)

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 2008

Fingerprint

Ornithine
Brain Diseases
Hepatocellular Carcinoma
Inborn Urea Cycle Disorder
Hyperammonemia
Metabolome
Arginine
Amino Acids
Drug Therapy
Mutation
Genes
Therapeutics

Keywords

  • Chemotherapy
  • Hepatocellular carcinoma
  • Hyperammonemia
  • Ornithine transcarbamoylase deficiency

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. / Chan, Joseph S.; Harding, Cary; Blanke, Charles.

In: Southern Medical Journal, Vol. 101, No. 5, 05.2008, p. 543-545.

Research output: Contribution to journalArticle

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