Related Experiment Video
Updated: Sep 2, 2025
09:42
Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
21.4K
Update on glycogen storage disease: primary hepatic involvement
Tiffany L Freeney Wright1,2, Luis A Umaña2,3, Charina M Ramirez1,2
1Division of Pediatric Gastroenterology, Nutrition and Hepatology, Department of Pediatrics, University of Texas Southwestern Medical Center.
Current Opinion in Pediatrics
|August 9, 2022
Summary
Glycogen storage diseases (GSDs) are rare genetic disorders affecting glucose metabolism. Timely diagnosis and management of hepatic GSDs are crucial to prevent serious complications like liver disease and neurodevelopmental delay.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders.
- Characterized by impaired glycogen metabolism, leading to hepatomegaly and hypoglycemia.
- Can affect multiple organs including liver, muscle, and kidneys, impacting neurodevelopment.
Purpose of the Study:
- To provide a concise review of hepatic GSDs.
- Focus on clinical presentation, diagnosis, and current management strategies.
- Aid clinicians in distinguishing between various GSD types for optimal patient care.
Main Methods:
- Literature review focusing on hepatic GSDs.
- Analysis of clinical presentation and diagnostic approaches.
- Evaluation of current therapeutic strategies for GSD management.
Main Results:
- GSDs are rare, with delayed diagnosis being a significant challenge.
- Molecular genetic testing has simplified diagnostic confirmation.
- Distinguishing GSD types is essential for tailored treatment.
Conclusions:
- Effective management of GSDs requires maintaining stable glucose levels.
- Avoiding hypoglycemia and hyperglycemia is critical.
- Understanding specific enzymatic defects guides personalized treatment plans for GSD patients.
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