Society guideline links: Glycogen storage disease types I and II

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

International

●Pompe Disease Diagnostic Working Group: Methods for a prompt and reliable laboratory diagnosis of Pompe disease – Report from an international consensus meeting (2008)

Canada

●Canadian Expert Panel: Evidence-based guidelines on Pompe disease – Diagnosis and management (2016)

United States

●Pompe Disease Newborn Screening Working Group: Newborn screening, diagnosis, and treatment for Pompe disease (2017)

●American College of Medical Genetics and Genomics (ACMG): Diagnosis and management of glycogen storage disease type I – A practice guideline (2014)

●ACMG: Lysosomal storage diseases – Diagnostic confirmation and management of presymptomatic individuals (2011)

●ACMG: Pompe disease diagnosis and management guideline (2006)

United Kingdom

●British Inherited Metabolic Disease Group (BIMDG): Protocol for glycogen storage disease type 1a – Acute decompensation (2008)

●BIMDG: Protocol for glycogen storage disease type 1b – Acute decompensation (2008)

Japan

●[In Japanese] Japanese Society for Inborn Errors of Metabolism: Practical guideline for the management of Pompe disease, 2018 (published 2019)