Current Treatment Guidelines

This publication outlines diagnosis and management guidelines for Glycogen Storage Disease type I (GSD I), including both GSDIa and GSDIb. Developed by an international panel of experts, the guidelines provide comprehensive, evidence-based recommendations on monitoring, dietary therapy, emergency care, and emerging treatments. These standards help ensure consistent, high-quality care for individuals with GSDI around the world, and serve as a critical resource for both families and healthcare providers. Note: these guidelines were published in 2014, and have not yet been updated to reflect changes in therapy, primarily the introduction of empagliflozin, but are still the most comprehensive guidelines available.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics (2014): Click Here

Current Guidelines for management of GSD type 1 (2014): Click Here

Emergency Protocol Letter:

Understanding and familiarizing yourself with standard emergency protocols for GSD1b, as well as knowing what constitutes an emergency, is vitally important. While specific recommendations may vary by region or medical providers, general guidance on emergency protocols in GSD1b, as well as managing illnesses at home, can be viewed on the Ask The Expert Webinar on Sick Day Management in GSD1b HERE.

An emergency protocol letter is a vital tool for individuals with GSD1b, ensuring that emergency medical teams can respond quickly and appropriately during illness or injury. Because people with GSD1b are at risk for life-threatening hypoglycemia and metabolic complications, timely intervention is critical. Letters should provide clear, disease-specific guidance to healthcare providers who may be unfamiliar with GSD1b, helping to prevent delays in care and avoid potentially dangerous treatments. If you have questions about what emergency letters should include or would like examples, please contact us.

Patients can also use this tool to create a customized emergency protocol letter, but always consult with your medical team about any questions regarding emergency protocols and specific recommendations. Click Here.