title: Late onset ornithine transcarbamylase deficiency: a case report.
abstract: Ornithine transcarbamylase deficiency, an X-linked disorder, is the most common inherited urea cycle defect. Previous reports have documented the existence of several different mutations that can, partly at least, explain the phenotypic variability of the disorder. We describe the only male with T343K mutation, which also is present in his mother. We underline the disorientation of the beginning of clinical presentation; the patient became ill when fruits were added to his diet.
authors.affiliation: Second Department of Pediatrics, P&A Kyriakou Children's Hospital, Athens, Greece. vasilios.apostolou@siemens.gr
authors.forename: Smaragdi
authors.initials: S
authors.lastname: Fessatou
authors.forename: Anastasia
authors.initials: A
authors.lastname: Garoufi
authors.forename: Helen
authors.initials: H
authors.lastname: Tsapra
authors.forename: George
authors.initials: G
authors.lastname: Maropoulos
authors.forename: Helen
authors.initials: H
authors.lastname: Michelakakis
authors.forename: Kleopatra
authors.initials: K
authors.lastname: Schulpis
mesh_terms: D017668:Age of Onset; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000097:blood; D041321:Chromosomes, Human, X / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000097:blood / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D009954:Ornithine Carbamoyltransferase; D002222:Carbamoyl-Phosphate Synthase (Ammonia)