Article
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)
2024-07-01
Abstract excerpt
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function. For instance, in GSD type II (Pompe disease), acid alpha-glucosidase deficiency leads to lysosomal glycogen accumulation, which secondarily impacts mitochondrial...
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Identifiers and source
- Literature Corpus work
- f97a4337-8320-5096-b409-4c65d52fa5be
- DOI
- 10.20944/preprints202407.0143.v1
