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	Glycogenosis type II
释义	Glycogenosis type II 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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Glycogenosis type II

Glycogen storage disease type II