title: Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma.
abstract: Hyperammonaemia due to ornithine transcarbamylase (OTC) deficiency is a well-described cause of coma in neonates. Rarely, adults with this disorder may also present with coma. Here we describe the first reported case, to our knowledge, in a pregnant woman. She was successfully treated with metabolic therapy and, contrary to usual paediatric practice, renal replacement therapy. We review the biochemistry of OTC deficiency and other urea cycle disorders, and discuss the physiological rationale and evidence base for treatment of this condition. We highlight the need to consider hyperammonaemia in the differential diagnosis of coma.
authors.affiliation: Department of Intensive Care Medicine, Austin Hospital, Melbourne, VIC.
authors.forename: David C
authors.initials: DC
authors.lastname: Crosbie
authors.forename: Hariharan
authors.initials: H
authors.lastname: Sugumar
authors.forename: Marion A
authors.initials: MA
authors.lastname: Simpson
authors.forename: Susan P
authors.initials: SP
authors.lastname: Walker
authors.forename: Helen M
authors.initials: HM
authors.lastname: Dewey
authors.forename: Michael C
authors.initials: MC
authors.lastname: Reade
mesh_terms: D000328:Adult; D003128:Coma / Q000201:enzymology / Q000209:etiology* / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000201:enzymology; D009953:Ornithine-Oxo-Acid Transaminase / Q000097:blood / Q000172:deficiency*; D010288:Parenteral Nutrition / Q000379:methods*; D011247:Pregnancy; D011248:Pregnancy Complications; D013997:Time Factors
chemical_list: D009953:Ornithine-Oxo-Acid Transaminase