title: The Anaesthetic Management of a Patient with Maple Syrup Urine Disease.
abstract: Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain aminoacids. It leads to a build-up of leucine, isoleucine, valine, and toxic metabolites in blood and urine, progressing to acute and chronic brain dysfunction. The first symptoms appear in early childhood and are characterized by sweet-smelling urine, with an odor similar to that of maple syrup. At birth, infants seem healthy, but if untreated, they may suffer from neurological deterioration, seizures, hypertonia, or ataxia. During stressful situations, such as infection or surgery, patients may experience severe ketoacidosis, rapid neurological deterioration, and hypoglycemia. We report the anaesthetic management in a child patient with MSUD, admitted for peritonal dialysis catheter insertion with general anaesthesia.
authors.affiliation: Clinic of Anaesthesiology and Reanimation, Ministry Health Suruç State Hospital, Şanlıurfa, Turkey.
authors.forename: Mahmut Alp
authors.initials: MA
authors.lastname: Karahan
authors.affiliation: Department of Anaesthesiology and Reanimation, Harran University Faculty of Medicine, Şanlıurfa, Turkey.
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Sert
authors.affiliation: Department of Anaesthesiology and Reanimation, Harran University Faculty of Medicine, Şanlıurfa, Turkey.
authors.forename: İnanç
authors.initials: İ
authors.lastname: Havlioğlu
authors.affiliation: Department of Anaesthesiology and Reanimation, Harran University Faculty of Medicine, Şanlıurfa, Turkey.
authors.forename: Hasan Hüsnü
authors.initials: HH
authors.lastname: Yüce
keywords: Maple syrup urine disease; complications; general anaesthesia