Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood

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

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.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / etiology*
  • Alkalosis, Respiratory / etiology
  • Arginine / blood
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis
  • Child, Preschool
  • Citrulline / blood
  • Citrulline / therapeutic use
  • Consciousness Disorders / etiology
  • Diagnosis, Differential
  • Diet, Protein-Restricted
  • Emergencies
  • Exons / genetics
  • Female
  • Glutamine / blood
  • Humans
  • Hyperammonemia / etiology
  • Language Development Disorders / etiology
  • Liver Transplantation
  • Mutation, Missense
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease / blood
  • Ornithine Carbamoyltransferase Deficiency Disease / complications
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / diet therapy
  • Ornithine Carbamoyltransferase Deficiency Disease / drug therapy
  • Ornithine Carbamoyltransferase Deficiency Disease / surgery
  • Phenylbutyrates / therapeutic use
  • Recurrence

Substances

  • Phenylbutyrates
  • Glutamine
  • Citrulline
  • Arginine
  • Ornithine Carbamoyltransferase