Karahan Mahmut Alp, Sert Hüseyin, Havlioğlu İnanç, Yüce Hasan Hüsnü
Clinic of Anaesthesiology and Reanimation, Ministry Health Suruç State Hospital, Şanlıurfa, Turkey.
Department of Anaesthesiology and Reanimation, Harran University Faculty of Medicine, Şanlıurfa, Turkey.
Turk J Anaesthesiol Reanim. 2014 Dec;42(6):355-7. doi: 10.5152/TJAR.2014.07830. Epub 2014 Jul 11.
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.
枫糖尿症（MSUD）是一种常染色体隐性代谢紊乱疾病，由支链氨基酸氧化脱羧作用不足引起。它会导致血液和尿液中亮氨酸、异亮氨酸、缬氨酸及有毒代谢产物积聚，进而发展为急性和慢性脑功能障碍。最初症状出现在幼儿期，特征为尿液有甜味，气味类似枫糖浆。婴儿出生时看似健康，但如果不治疗，可能会出现神经功能恶化、癫痫、张力亢进或共济失调。在感染或手术等应激情况下，患者可能会出现严重酮症酸中毒、快速神经功能恶化及低血糖。我们报告了一名因腹膜透析导管插入术需全身麻醉而入院的患有MSUD的儿童患者的麻醉管理情况。
