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糖原累积症Ⅰ型是由于肝、肾及肠中葡萄糖-6磷酸酶(简称G6P酶)的遗传缺陷或缺失,伴有糖原在这些组织中贮积。肝中G6P酶活性的缺失,迅速导致饥饿时低血糖,因为不能通过正常的糖原分解及糖原异生作用从G6P中释放足够的葡萄糖。其他临床表现,包括生长障碍,肝大,乳酸中毒,高尿酸血症及高脂血症等都可归因于低血糖。因此能维持正常血糖浓度的各种治疗可纠正大部分代谢异常及生长障碍。已应用的治疗有胃肠道外营养,门腔静脉分流术
Glycogenosis syndrome type I is due to genetic defects or deletions of liver, kidney and intestinal glucose-6 phosphatase (G6P enzyme), accompanied by the accumulation of glycogen in these tissues. The absence of G6P enzymatic activity in the liver rapidly leads to hypoglycemia on starvation, as sufficient glucose can not be released from G6P by normal glycogenolysis and gluconeogenesis. Other clinical manifestations, including growth disorders, hepatomegaly, lactic acidosis, hyperuricemia and hyperlipidemia are all attributable to hypoglycaemia. Therefore, various treatments that maintain normal blood glucose levels can correct most metabolic disorders and growth disorders. Has been applied treatment of parenteral nutrition, portal venous shunt