Pompe disease is caused by a defect in a gene on chromosome 17. Because of this defect, victims lack an enzyme for metabolizing glycogen, resulting in its accumulation in the skeletal muscles and heart. The muscle fibers are replaced by glycogen, resulting in a loss of muscular function and swelling of the heart. In addition, symptoms such as loss of muscle strength and breathing difficulties gradually appear.
「龐貝氏症」是第 17 號染色體的基因缺陷疾病，病童體內因缺乏分解肝醣的酵素，導致肝醣積存在肌肉及心臟中，肌肉纖維被肝醣取代，喪失功能，心臟肥大，並出現漸進式的肌肉無力和呼吸困難等症狀，9 成的病童活不過一歲，就因呼吸衰竭或感染死亡。