Correspondence

Hyperammonemic Encephalopathy Precipitated by a Bleeding Peptic Ulcer

Authors: Sumit Gaur, MD, Vani Shukla, MD

Abstract

To the Editor:


Ornithine transcarbamylase (ornithine carbamoyltransferase) deficiency is an X-linked disorder of the urea cycle in which deficiency of the enzyme leads to impaired generation of citrulline and urea from ornithine and carbamoyl phosphate. 1 It is the most common inherited disorder of the urea cycle. The disease has a variable phenotypic expression in females, primarily determined by the proportion of hepatocytes that bear the mutant allele in the active X chromosome. 2,3 We report an unusual case of hyperammonemic encephalopathy precipitated by a bleeding peptic ulcer in a patient with previously undiagnosed ornithine transcarbamylase deficiency.

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References

1. Brusilow SW, Maestri NE. Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 1996; 43: 127–170.
 
2. Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med 1980; 302: 482–485.
 
3. Rowe PC, Newman SL, Brusilow SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 1986; 314: 541–547.
 
4. Trivedi M, Zafar S, Spalding MJ, Jonnalagadda S. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. J Clin Gastroenterol 2001; 32: 340–343.