Affordable Access

Publisher Website

Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency

Authors
Journal
Journal of Korean Medical Science
1011-8934
Publisher
Korean Academy of Medical Sciences (KAMJE)
Publication Date
Volume
27
Issue
5
Identifiers
DOI: 10.3346/jkms.2012.27.5.556
Keywords
  • Case Report
  • Nephrology
Disciplines
  • Medicine

Abstract

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments

More articles like this

Late-Onset Ornithine Carbamoyltransferase Deficien...

on Case Reports in Medicine Jan 01, 2013

Intravenous arginine dramatically improved hyperam...

on The Tohoku journal of experime... September 1996

Identification of two new aberrant splicings in th...

on Journal of Inherited Metabolic... 1995

Late-onset ornithine transcarbamylase deficiency i...

on The Journal of Pediatrics December 1990
More articles like this..