Glycogen storage disease type II

Muscle biopsy showing large vacuoles in a case of Pompe disease (HE stain, frozen section).

Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.

单词	Pompe Disease
释义	Pompe Disease 原声例句 VOA Special 2022年12月合集 Babies with Pompe disease have trouble feeding and experience muscle weakness. 患有庞贝氏症的婴儿进食困难，肌肉无力。英语百科 Glycogen storage disease type II Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.
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Pompe Disease

Glycogen storage disease type II