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Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood

Aizeddin A Mhanni1, Chitra Prasad, Cheryl Rockman-Greenberg

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

Pediatric Emergency Care
|September 20, 2011
PubMed

Insights

Recurrent abdominal pain in children can signal rare metabolic disorders. Early consideration of inborn errors of metabolism, like ornithine transcarbamylase deficiency, can prevent unnecessary tests.

Area of Science:

  • Pediatric Gastroenterology
  • Metabolic Disorders
  • Genetics

Background:

  • Recurrent abdominal pain is a frequent pediatric complaint.
  • Urea cycle disorders (UCDs) typically present with vomiting beyond the neonatal period.

Observation:

  • A 3-year-old girl experienced recurrent abdominal pain, leading to over 13 emergency department visits.
  • Diagnosis was delayed due to the unusual presentation.

Findings:

  • The patient was diagnosed with ornithine transcarbamylase deficiency, a type of UCD.
  • Recurrent abdominal pain is an atypical initial symptom for UCDs.

Implications:

  • Considering inborn errors of metabolism in the differential diagnosis for recurrent abdominal pain is crucial.
  • Early metabolic evaluation can prevent invasive procedures and diagnostic delays in children.

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