Choudhury Arindam, Das Sambhunath, Kiran Usha
Senior resident, Department of Cardiac Anaesthesiology, Cardiothoracic Centre, All India Institute of Medical Sciences, New Delhi 110029.
Indian J Anaesth. 2009 Apr;53(2):219-22.
Galactosaemia is an autosomal recessive metabolic disorder that occurs due to galactose-1-phosphate uridyl transferase enzyme deficiency that leads to hepatic, ophthalmic, neural and renal derangements. Association of cyanotic congenital heart disease with galactosaemia is a rare occurence and a matter of great concern for the anaesthesiologist during open heart surgery. In this case report, the perioperative management of a newborn with galactosaemia operated for correction of transposition of great arteries (TGA) is discussed.
半乳糖血症是一种常染色体隐性代谢紊乱疾病，因1-磷酸半乳糖尿苷转移酶缺乏所致，会导致肝脏、眼部、神经和肾脏功能紊乱。患有半乳糖血症的新生儿合并青紫型先天性心脏病是一种罕见情况，在心脏直视手术期间，这也是麻醉医生极为关注的问题。在本病例报告中，我们讨论了一名患有半乳糖血症的新生儿在接受大动脉转位（TGA）矫正手术围手术期的管理情况。
