Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy

Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. We report here the clinical and laboratory findings in five symptomatic het...

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