title: [Patients with ornithine transcarbamylase deficiency. Anaesthesiological and intensive care management].
abstract: Ornithine transcarbamylase deficiency (OTCD) is the most common inborn urea cycle disorder. Patients with OTCD are at risk of acute metabolic decompensation with hyperammonemia and subsequent encephalopathy, coma and death. Symptoms may be triggered by infections, drugs and stress, evoked by trauma, pain, fear, surgery and anaesthesia or by episodes of protein catabolism, i.e. fasting-induced, post partum or during gastrointestinal bleeding. Several specific considerations must be made for anaesthetic and intensive care management in patients with this disease in order to avoid metabolic decompensation. We report the intensive care management of the first manifestation of late-onset OTCD in a 16-year-old girl and a course of inconspicuous general anaesthesia with midazolam, s-ketamine, fentanyl and isoflurane in a 22-year-old girl with known OTCD.
authors.affiliation: Klinik für Anästhesiologie, FAU, Erlangen-Nürnberg, Krankenhausstrasse 12, 91054 Erlangen. joachim.schmidt@gmx.ch
authors.forename: J
authors.initials: J
authors.lastname: Schmidt
authors.forename: M
authors.initials: M
authors.lastname: Schroth
authors.forename: A
authors.initials: A
authors.lastname: Irouschek
authors.forename: T
authors.initials: T
authors.lastname: Birkholz
authors.forename: M
authors.initials: M
authors.lastname: Kurzai
authors.forename: S
authors.initials: S
authors.lastname: Kröber
authors.forename: M
authors.initials: M
authors.lastname: Meisner
authors.forename: S
authors.initials: S
authors.lastname: Albrecht
mesh_terms: D000759:Adjuvants, Anesthesia; D000293:Adolescent; D000758:Anesthesia; D000768:Anesthesia, General; D000778:Anesthetics, Dissociative; D018685:Anesthetics, Inhalation; D001921:Brain / Q000000981:diagnostic imaging; D003422:Critical Care; D005260:Female; D005283:Fentanyl; D006801:Humans; D006993:Hypnotics and Sedatives; D007530:Isoflurane; D007649:Ketamine; D008874:Midazolam; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D017585:Ultrasonography, Doppler, Transcranial
chemical_list: D000759:Adjuvants, Anesthesia; D000778:Anesthetics, Dissociative; D018685:Anesthetics, Inhalation; D006993:Hypnotics and Sedatives; D007649:Ketamine; D007530:Isoflurane; D008874:Midazolam; D005283:Fentanyl