title: Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.
abstract: OBJECTIVE
  To report the clinical manifestations of acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency (OTCD).
  
  
  METHODS
  Case report.
  
  
  METHODS
  Intensive care unit of a tertiary medical centre.
  
  
  METHODS
  A 48-year-old Caucasian male body builder who developed acute loss of consciousness after a febrile illness.
  
  
  METHODS
  The patient was immediately started on hemodia-filtration, protein elimination and ammonia scavenging medications.
  
  
  RESULTS
  Serum ammonium was elevated and plasma and urine amino acids had a pattern indicative of a urea cycle defect. DNA studies revealed a mutation of the urea cycle enzyme, ornithine transcarbamylase. The encephalopathy resolved and the patient slowly recovered though with some cognitive impairment.
  
  
  CONCLUSIONS
  Adult presentation of OTCD is rare and the mortality and morbidity rates are high. However, survival is possible with rapid correction of hyperammonemia. As the clinical manifestations are non-specific, a high index of suspicion is necessary for the correct diagnosis and management.
authors.affiliation: Intensive Care Unit, Logan Hospital, Cnr Armstrong and Loganlea Rds, Meadowbrook, QLD 4131, Australia.
authors.forename: Ogee Mer
authors.initials: OM
authors.lastname: Panlaqui
authors.forename: Khoa
authors.initials: K
authors.lastname: Tran
authors.forename: Amanda
authors.initials: A
authors.lastname: Johns
authors.forename: Jim
authors.initials: J
authors.lastname: McGill
authors.forename: Hayden
authors.initials: H
authors.lastname: White
mesh_terms: D001928:Brain Diseases, Metabolic / Q000209:etiology*; D017583:Hemodiafiltration; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000209:etiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy