糖原储积症为先天性糖原代谢紊乱性疾病。多数由于糖原代谢酶的缺陷而致糖原分解或合成障碍,从而产生不同组织器官中糖原或异形糖原的过多储积。主要受累的脏器有肝、肾、肌肉、脑、小肠等,少数是由于糖原合成酶的缺陷,以致肝糖原明显减少。本病多见于婴幼儿,可在围产期发生,除IX_6型为伴性遗传外,其它各型均为常染色体隐性遗传。 Glycogen storage disease is a congenital disorder of glycogen metabolism. Most of the glycogen metabolism due to defects in enzymes caused by glycogen breakdown or synthesis barriers, resulting in different tissues and organs of glycogen or abnormal glycogen excess storage. The main organs involved are liver, kidney, muscle, brain, small intestine, etc., a small number of defects due to glycogen synthase, resulting in significantly reduced glycogen. The disease is more common in infants and young children, can occur in the perinatal period, in addition to IX_6 type is associated with inheritance, the other types are autosomal recessive.