title: Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.
abstract: Neonatal hyperammonemia secondary to X-linked ornithine transcarbamylase (OTC) deficiency carries a high risk of morbidity and mortality. Results of medical therapy are less than satisfactory. Experience with liver transplantation in very young affected infants is limited. We report a male newborn with severe OTC deficiency who underwent successful orthotopic, cadaveric liver transplantation at the age of 60 days. Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available.
authors.affiliation: Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA.
authors.forename: Regina
authors.initials: R
authors.lastname: Ensenauer
authors.forename: Mendel
authors.initials: M
authors.lastname: Tuchman
authors.forename: Mounif
authors.initials: M
authors.lastname: El-Youssef
authors.forename: Suresh
authors.initials: S
authors.lastname: Kotagal
authors.forename: Michael B
authors.initials: MB
authors.lastname: Ishitani
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Dusica
authors.initials: D
authors.lastname: Babovic-Vuksanovic
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002102:Cadaver; D002658:Developmental Disabilities / Q000209:etiology; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000628:therapy; D007223:Infant; D007227:Infant Nutritional Physiological Phenomena; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D016031:Liver Transplantation / Q000379:methods*; D008279:Magnetic Resonance Imaging; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000209:etiology / Q000628:therapy*; D011247:Pregnancy; D011859:Radiography; D014019:Tissue Donors; D016896:Treatment Outcome