Journal of Inherited Metabolic Disease 2006-Feb
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
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We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.