title: Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
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.
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. amhanni@hsc.mb.ca
authors.forename: Aizeddin A
authors.initials: AA
authors.lastname: Mhanni
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.forename: Cheryl
authors.initials: C
authors.lastname: Rockman-Greenberg
mesh_terms: D015746:Abdominal Pain / Q000209:etiology*; D000472:Alkalosis, Respiratory / Q000209:etiology; D001120:Arginine / Q000097:blood; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood / Q000627:therapeutic use; D003244:Consciousness Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D018753:Diet, Protein-Restricted; D004630:Emergencies; D005091:Exons / Q000235:genetics; D005260:Female; D005973:Glutamine / Q000097:blood; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D007805:Language Development Disorders / Q000209:etiology; D016031:Liver Transplantation; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000188:drug therapy / Q000601:surgery; D010654:Phenylbutyrates / Q000627:therapeutic use; D012008:Recurrence
chemical_list: D010654:Phenylbutyrates; D005973:Glutamine; D002956:Citrulline; D001120:Arginine; D009954:Ornithine Carbamoyltransferase