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  • Title: Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
    Author: Mhanni AA, Prasad C, Rockman-Greenberg C.
    Journal: Pediatr Emerg Care; 2011 Sep; 27(9):850-3. PubMed ID: 21926883.
    Abstract:
    Recurrent abdominal pain remains one of the most common symptoms in pediatrics. We present the case of a 3-year-old girl who had recurrent episodes of abdominal pain requiring more than 13 visits to the emergency department. A diagnosis of ornithine transcarbamylase deficiency was eventually made. Urea cycle disorders often present beyond the neonatal period with frequent vomiting episodes; however, recurrent abdominal pain as a presenting symptom is unusual. Unnecessary invasive investigations of recurrent abdominal pain in childhood can be avoided by considering inborn errors of metabolism earlier in the differential diagnosis.
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