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Glycogen storage diseases: An update.

Ersin Gümüş1, Hasan Özen2

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Glycogen storage diseases (GSDs) are inherited metabolic disorders affecting glycogen metabolism. Early diagnosis and treatment are crucial for better outcomes in these rare conditions.

Keywords:
Glycogen storage diseaseHypoglycemiaLiverMuscle

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Glycogen storage diseases (GSDs) are inherited metabolic disorders stemming from enzyme or transporter deficiencies in glycogen synthesis or degradation.
  • These rare diseases affect approximately 1 in 20,000–43,000 live births and encompass over 20 distinct types.
  • GSDs primarily impact the liver and muscles due to high glycogen abundance, but can involve other organs like the heart, kidneys, and brain.

Purpose of the Study:

  • To provide a comprehensive review of Glycogen Storage Diseases (GSDs).
  • To detail the general characteristics of all GSD types.
  • To emphasize GSDs with liver involvement.

Main Methods:

  • Literature review of inherited metabolic disorders of glycogen metabolism.
  • Classification of GSDs based on deficient enzymes and affected tissues.
  • Analysis of clinical manifestations, diagnostic considerations, and therapeutic approaches.

Main Results:

  • GSDs present a heterogeneous group of inborn errors of carbohydrate metabolism with a wide spectrum of clinical phenotypes.
  • Current management focuses on dietary interventions (e.g., uncooked cornstarch) and supportive therapies.
  • Emerging treatments include enzyme replacement therapy (ERT), organ transplantation, and gene therapy.

Conclusions:

  • Physicians must consider GSDs in the differential diagnosis for patients presenting with symptoms like fasting hypoglycemia, hepatomegaly, and muscle weakness.
  • Early diagnosis and aggressive management are linked to improved patient prognosis.
  • Further research into novel therapeutic strategies, such as gene therapy, is essential for GSDs.