title: [Anaesthesia in patients with maple syrup urine disease. Case report and perioperative anaesthetic management].
abstract: Maple syrup urine disease is a rare autosomal-recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain amino acids. First symptoms appear in the neonatal period. Without treatment the disease is characterized by rapid progression of neurological symptoms. During stressful situations, such as infection or surgery, patients may experience severe ketoacidosis, rapid neurological deterioration and hypoglycemia. The perioperative management of a 26-year-old man with maple syrup urine disease is described, a review of the disease is given and anaesthesia-related implications are discussed.
authors.affiliation: Klinik für Anästhesie und Operative Intensivmedizin, Bereich Perioperative Medizin, Kantonsspital Aarau, 5001 Aarau, Schweiz. phaberstich75@hotmail.com
authors.forename: P
authors.initials: P
authors.lastname: Haberstich
authors.forename: C H
authors.initials: CH
authors.lastname: Kindler
authors.forename: M
authors.initials: M
authors.lastname: Schürch
mesh_terms: D000328:Adult; D000758:Anesthesia; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007930:Leucine; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000628:therapy*; D009422:Nervous System Diseases / Q000209:etiology / Q000523:psychology; D019990:Perioperative Care
chemical_list: D007930:Leucine
references.citation: Anesthesiology. 2000 Dec;93(6):1557-60
references.pmid: 11149465
references.citation: Anaesthesia. 1996 Jun;51(6):575-8
references.pmid: 8694213
references.citation: Anesthesiology. 1997 Jan;86(1):10-23
references.pmid: 9009935
references.citation: Pediatrics. 2002 Jun;109(6):999-1008
references.pmid: 12042535
references.citation: Pediatrics. 1954 Nov;14(5):462-7
references.pmid: 13214961
references.citation: Br J Anaesth. 2009 Jan;102(1):144-5
references.pmid: 19059928
references.citation: Pediatrics. 2006 Sep;118(3):e934-63
references.pmid: 16950973