Abstract：
Glycogen storage disease type 1 is a congenital abnormality of metabolism caused by the deficiency of the glucose-6-phosphatase enzyme, essential in glucose homeostasis. Patients with this disease are at high risk of developing hypoglycemia, hyperlipidemia, lactic acidemia, growth retardation, neutropenia, inflammatory bowel disease, and many other severe complications, such as hepatic adenomas converting into hepatocellular carcinomas. To prevent these complications, a liver transplant is the ultimate method of treatment. We present the successful anesthesia management for a 21-year-old man who had gross hepatomegaly, severe hypoglycemia, and hyperlactatemia and who received a liver transplant from his mother, which is a substantial challenge for anesthesiologists. Anesthesiologists should know the underlying pathophysiological condition and perform a comprehensive preoperative evaluation to determine the correct anesthesia plan in patients with glycogen storage disease type 1 who will undergo an orthotopic liver transplant due to multiple system disorders. Successful perioperative management of patients with glycogen storage disease type 1 relies on effective communication and collaboration between specialists through a multidisciplinary team approach.
摘要：
糖原贮积病1型是由葡萄糖-6-磷酸酶缺乏引起的先天性代谢异常，在葡萄糖稳态中必不可少。患有这种疾病的患者发生低血糖的风险很高，高脂血症,乳酸血症,生长迟缓,中性粒细胞减少症,炎症性肠病，和许多其他严重的并发症，如肝腺瘤转化为肝细胞癌。为了防止这些并发症，肝移植是最终的治疗方法。我们介绍了一名21岁患有严重肝肿大的男性的成功麻醉管理，严重低血糖,和高乳酸血症，他接受了母亲的肝脏移植，这对麻醉师来说是一个巨大的挑战。麻醉医师应了解潜在的病理生理状况，并进行全面的术前评估，以确定1型糖原贮积症患者的正确麻醉计划，这些患者将因多种系统疾病而进行原位肝移植。糖原贮积病1型患者的成功围手术期管理依赖于专家之间通过多学科团队方法的有效沟通和合作。
