Curative treatment of ornithine transcarbamylase deficiency with a liver transplant: A case report

Abstract

One of the X chromosome-linked disorders is ornithine transcarbamylase deficiency in the urea cycle. This disorder results in increased ammonia and glutamine in the blood. Accumulation of these metabolites without treatment causes brain edema, which often progresses to coma and death. This study describes a 5-year-old girl with ornithine transcarbamylase deficiency who presented with hyperammonemic encephalopathy that was successfully treated with an orthotropic liver transplant. Recently, liver transplant has been introduced as an alternative treatment for patients with ornithine transcarbamylase deficiency.