title: High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure.
abstract: OTCD can present with ALF at any age. Under adequate therapy symptoms resolve quickly. We report a three-yr-old girl with the manifestation of an OTCD as ALF. Despite adequate pharmacotherapy and protein restriction, the patient deteriorated and developed hepatic encephalopathy. A high urgency liver transplantation was performed and the patient recovered completely. We conclude that in patients with ALF urea cycle defects in general and OTCD in particular should be considered as differential diagnosis. Patients should be managed in a center that has the capacity for an emergency liver transplantation.
authors: Department of General Pediatrics, University of Heidelberg, Heidelberg, Germany. ulrike.teufel@med.uni-heidelberg.de
authors: Ulrike
authors: U
authors: Teufel
authors: Jürgen
authors: J
authors: Weitz
authors: Christa
authors: C
authors: Flechtenmacher
authors: Viola
authors: V
authors: Prietsch
authors: Jan
authors: J
authors: Schmidt
authors: Georg F
authors: GF
authors: Hoffmann
authors: Stefan
authors: S
authors: Kölker
authors: Guido
authors: G
authors: Engelmann
mesh_terms: D000410:Alanine Transaminase / Q000378:metabolism; D001219:Aspartate Aminotransferases / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006501:Hepatic Encephalopathy / Q000473:pathology; D006801:Humans; D017114:Liver Failure, Acute / Q000628:therapy*; D016031:Liver Transplantation / Q000379:methods*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000628:therapy*; D015995:Prevalence; D016896:Treatment Outcome; D014508:Urea / Q000378:metabolism
chemical_list: D014508:Urea; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase