Correspondence
Hyperammonemic Encephalopathy Precipitated by a Bleeding Peptic Ulcer
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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