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Pediatr Emerg Care. 2011 Sep;27(9):850-3. doi: 10.1097/PEC.0b013e31822c25c9.

Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.

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  • 1Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. amhanni@hsc.mb.ca

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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