JOURNAL ARTICLE

Pompe disease, a new approach to clearing out the trash.

  • Published In: American Journal of Physiology: Endocrinology & Metabolism, 2024, v. 327, n. 5. P. E653 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Olson, Ann Louise 3 of 3

Abstract

The article discusses Pompe disease, also known as glycogen storage disease type II, which is a rare autosomal recessive condition caused by mutations in the GAA gene. The disease can present in infancy with severe symptoms or later in life with milder symptoms such as muscle weakness and fatigue. Enzyme replacement therapy has been the primary treatment, but gene therapy and a novel approach involving a small molecule inhibitor of glycogen synthase I are being explored as potential alternatives. Preclinical data on the inhibitor MZ-101 show promising results in reducing glycogen levels in muscle tissue, but further research is needed to determine its long-term efficacy and safety in clinical trials. [Extracted from the article]

Additional Information

  • Source:American Journal of Physiology: Endocrinology & Metabolism. 2024/11, Vol. 327, Issue 5, pE653
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2024
  • ISSN:0193-1849
  • DOI:10.1152/ajpendo.00379.2024
  • Accession Number:181093914
  • Copyright Statement:Copyright of American Journal of Physiology: Endocrinology & Metabolism is the property of American Physiological Society and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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