title: A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.
abstract: Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: Se Hee
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: Jin Sook
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: Yong Seoung
authors.initials: YS
authors.lastname: Hwang
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea.
authors.forename: June Dong
authors.initials: JD
authors.lastname: Park
authors.affiliation: Department of Radiology, Seoul National University College of Medicine, South Korea.
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Cheon
authors.affiliation: Department of Radiology, Seoul National University College of Medicine, South Korea.
authors.forename: In-One
authors.initials: IO
authors.lastname: Kim
authors.affiliation: Division of Child and Adolescent Psychiatry, Department of Neuropsychiatry, Seoul National University College of Medicine, South Korea.
authors.forename: Boong-Nyun
authors.initials: BN
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea. Electronic address: chaeped1@snu.ac.kr.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000473:pathology
chemical_list: D009954:Ornithine Carbamoyltransferase
keywords: Attention deficit-hyperactivity disorder; Female carrier; Ornithine carbamoyltransferase deficiency; Stroke