title: Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.
abstract: A young woman presented with general malaise in relation to the metabolic condition ornithine transcarbamylase deficiency. Her ammonia level had risen to 229 µmol/L (normal range 0-59 µmol/L). She was treated using her emergency pack of intravenous medicines and made a complete response. We briefly discuss the need to make an urgent diagnosis, the 'mechanism' for checking serum ammonia levels and therapies.
authors.affiliation: Department of Cardiology, Hillingdon Hospital, Uxbridge, UK.
authors.forename: Sarneet
authors.initials: S
authors.lastname: Singh
authors.affiliation: Department of Cardiology, Hillingdon Hospital, Uxbridge, UK.
authors.forename: Shrestha
authors.initials: S
authors.lastname: Pal
authors.affiliation: Department of Cardiology, Hillingdon Hospital, Uxbridge, UK.
authors.forename: Simon William
authors.initials: SW
authors.lastname: Dubrey
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000627:therapeutic use; D005260:Female; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000188:drug therapy; D010654:Phenylbutyrates / Q000627:therapeutic use; D020160:Sodium Benzoate / Q000627:therapeutic use; D016896:Treatment Outcome; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D010654:Phenylbutyrates; D000641:Ammonia; D001120:Arginine; D020160:Sodium Benzoate