title: Ornithine transcarbamylase deficiency presenting as hepatitis.
abstract: Ornithine transcarbamylase deficiency is an inborn error of metabolism that commonly presents as hyperammonemia in neonates. We present a case of a 2-year-old girl who was referred to a pediatric emergency department for evaluation of hepatitis, an uncommon presentation of ornithine transcarbamylase deficiency. Recognition of late presentations of this disease is important for survival and neurological outcome.
authors.affiliation: Division of Emergency Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. aronsonp@email.chop.edu
authors.forename: Paul L
authors.initials: PL
authors.lastname: Aronson
authors.forename: Rakesh D
authors.initials: RD
authors.lastname: Mistry
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006505:Hepatitis / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis