Glycogen Storage Disorders

Overview of inherited metabolic disorders.

Reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner)
Last reviewed: 21 October 2025
GeneticsEndocrinologyPaediatrics

Clinical Guidelines

ACMG Standards and Guidelines: Diagnosis and management of glycogen storage diseases
National
Diagnosis and management of glycogen storage diseases type VI and IX: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
National
ESC Working Group Position Statement: Diagnosis and Management of Cardiac Involvement in Fabry Disease and Other Glycogen Storage Disorders
National
French recommendations for the management of glycogen storage diseases
National
Glycogen Storage Disease Type III diagnosis and management guidelines
National
Position statement on Glycogen storage disorders (JPAC Document Library)
National
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
Local
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy
Local
Clinical Practice Guidelines for Glycogen Storage Disease V & VII (McArdle Disease and Tarui Disease)
Local
Practice Guideline of the American College of Medical Genetics and Genomics: Glycogen Storage Diseases
Local