Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
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ABSTRACT:
SUBMITTER: Meena NK
PROVIDER: S-EPMC7564159 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Publications
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Meena Naresh K NK Raben Nina N
Biomolecules 20200918 9
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only dise ...[more]
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