Ornithine transcarbamylase deficiency: neonatal diagnostic

OBJECTIVE: To drive pediatrician's attention to a urea cycle enzyme deficiency. The prognosis is directly related to the early diagnosis and treatment. METHODS: We describe a newborn patient who present lethargy, vomitus and seizures 48 hours afther birth. We investigated this patient and the diagnosis of ornithine transcarbamylase deficiency was made. Treatment was started immediately. RESULTS: We followed the patient until he was 1 year old, when he had liver transplant with a good outcome of the disease. CONCLUSION: The ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient without any infection must be investigated for this disease. The prognosis is directly related to the early diagnosis and treatment.