引言糖元累积病Ⅱ型(Pompe氏病)是一种以溶酶体糖元沉积为特点的常染色体隐性疾病。糖元降解降低是由于缺乏酸性α-葡萄糖苷酶。已搞清楚糖元累积病Ⅱ型某些临床分型在发病年龄、累及器官和疾病进展方面的差别。在婴儿型(普遍糖元累积病Ⅱ型)累及所有组织,生后短时间就出现症状,肝脾肿大和肌肉无力,并在生后一年内通常死于糖元过度沉积引起的心力衰竭。在少年型没有或很少累及心肌;通常初期症状是行走困 Introduction Glycogen accumulating disease type II (Pompe’s disease) is an autosomal recessive disease characterized by lysosomal glycogen deposition. Glycogen degradation is due to the lack of acid α-glucosidase. It has been clarified glycogen accumulating disease type Ⅱ some clinical types in the age of onset, organ involvement and disease progression differences. Symptoms, hepatosplenomegaly and muscular weakness occur shortly after birth in infants (universal glycogen storage disease type II) and usually die of heart failure due to excessive glycogen deposition within one year of birth. In juveniles there is little or no involvement of the myocardium; usually the initial symptoms are walking difficulties