Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.

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.

• Authors: Joseph S Chan, Cary O Harding, Charles D Blanke
• Journal: Southern medical journal (South Med J) Vol. 101 Issue 5 Pg. 543-5 (May 2008) ISSN: 1541-8243 [Electronic] United States
• PMID: 18414167 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutamine
• Citrulline
• Orotic Acid
• Arginine
• Ornithine

Topics

• Adult
• Arginine (blood, therapeutic use)
• Carcinoma, Hepatocellular (complications, drug therapy)
• Citrulline (blood)
• Female
• Glutamine (blood)
• Hepatic Encephalopathy (diagnosis, drug therapy, etiology)
• Humans
• Hyperammonemia (diagnosis, drug therapy, etiology)
• Liver Neoplasms (complications, drug therapy)
• Ornithine (blood)
• Ornithine Carbamoyltransferase Deficiency Disease (diagnosis, genetics)
• Orotic Acid (urine)
• Polymorphism, Single-Stranded Conformational
• Syndrome