title: Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report.
abstract: One of the X chromosome-linked disorders is ornithine transcarbamylase deficiency in the urea cycle. This disorder results in increased ammonia and glutamine in the blood. Accumulation of these metabolites without treatment causes brain edema, which often progresses to coma and death. This study describes a 5-year-old girl with ornithine transcarbamylase deficiency who presented with hyperammonemic encephalopathy that was successfully treated with an orthotropic liver transplant. Recently, liver transplant has been introduced as an alternative treatment for patients with ornithine transcarbamylase deficiency.
authors.affiliation: From the Shiraz Organ Transplant Center, Shiraz, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Shamsaeefar
authors.forename: Saman
authors.initials: S
authors.lastname: Nikeghbalian
authors.forename: Seyed Mohsen
authors.initials: SM
authors.lastname: Dehghani
authors.forename: Kourosh
authors.initials: K
authors.lastname: Kazemi
authors.forename: Nasrin
authors.initials: N
authors.lastname: Motazedian
authors.forename: Bita
authors.initials: B
authors.lastname: Geramizadeh
authors.forename: Seyed Ali
authors.initials: SA
authors.lastname: Malekhosseini
mesh_terms: D002675:Child, Preschool; D005260:Female; D006501:Hepatic Encephalopathy / Q000097:blood / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D016031:Liver Transplantation; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D016896:Treatment Outcome