第Ⅱ型糖原沉积病(Glycogenosis ty-peⅡ)是一种少见的代谢障碍性疾病,由Pompe 氏在1932年首先报告,故又称Pompe氏病。当时pompe 氏发现,本病患者心脏明显增大,全身多种组织有糖原沉积,尤其是心肌、骨骼肌及肝脏受累最严重,Pompe 氏称之为糖原性心肥大,患者均为婴儿,预后不良。1963年,Hers发现本病患者溶酶体α—1,4—葡萄糖苷酶(酸性麦芽糖酶)缺乏,认为这是造成糖原在组织大量沉积的原因。自此以后,有称此病为酸性麦芽糖酶缺 Glycogenosis ty-pe II is a rare metabolic disorder that was first reported by Pompe in 1932 and is also known as Pompe’s disease. At that time, pompe’s found that the patient’s heart was significantly increased, systemic glycogen deposition in a variety of organizations, especially myocardial, skeletal muscle and liver involvement most serious, Pompe called glycogenin hypertrophy, patients were infants, Poor prognosis. In 1963, Hers discovered that the patients lacked lysosomal α-1,4-glucosidase (acid maltase), which is believed to be responsible for the massive deposition of glycogen in the tissues. Since then, the disease has been called acid maltase deficiency