肝糖原累积病为Ⅰ型糖原累积病,又称冯吉尔克(Von Gierke)氏病,或叫葡萄糖—6—磷酸酶缺乏症,是一种极少见的先天性、有时表现为家族性的糖代谢障碍的疾病。此病发生于婴幼儿。其临床特点为肝肿大,发育迟缓,血糖过低或酮尿,高脂血症,病理检查可见肝、肾、心脏等器官有大量的糖原储存,属常染色体隐性遗传,父母多为近亲结婚。 Hepatic glycogen storage disease is type I glycogen storage disease, also known as Von Gierke’s disease, or glucose-6-phosphatase deficiency, is a rare congenital, sometimes manifested as a family Sexual disorders of glucose metabolism. The disease occurs in infants and young children. The clinical features of hepatomegaly, stunted growth, hypoglycemia or ketoneuria, hyperlipidemia, pathological examination shows liver, kidney, heart and other organs have a lot of glycogen storage, is autosomal recessive, mostly parents Married relatives.