Overview
Lysosomal glycogen storage disease is a rare inherited condition where the body cannot properly break down glycogen — a form of stored sugar — inside tiny cell compartments called lysosomes. Because glycogen builds up in these compartments, it damages cells over time, especially in the muscles, heart, and liver. This disease is also known as Pompe disease (when caused by acid alpha-glucosidase deficiency) or, more broadly, as glycogen storage disease type II. There is also a rarer form called Danon disease, which involves a different lysosomal protein. The buildup of glycogen causes muscles to weaken progressively. In babies, this can appear very quickly and severely, affecting the heart and breathing. In older children and adults, the disease tends to progress more slowly but still leads to significant muscle weakness, breathing difficulties, and reduced quality of life. Treatment has improved greatly in recent years. Enzyme replacement therapy (ERT) — using a lab-made version of the missing enzyme — is now available and can slow the disease. Newer gene therapy approaches are also being studied. Early diagnosis is key to getting the best outcomes from treatment.
Key symptoms:
Muscle weakness, especially in the legs, hips, and trunkDifficulty breathing or shortness of breathTrouble walking, climbing stairs, or getting up from the floorEnlarged heart (in infants)Feeding difficulties in babiesFatigue and low energyScoliosis (curved spine)Difficulty swallowingFrequent respiratory infectionsSleep-disordered breathing or sleep apneaEnlarged liverDelayed motor milestones in infants and children
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Lysosomal glycogen storage disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Lysosomal glycogen storage disease at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Lysosomal glycogen storage disease.
Community
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Start the conversation →Latest news about Lysosomal glycogen storage disease
Disease timeline:
New trial: Genetic Studies of Lysosomal Storage Disorders
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific form of lysosomal glycogen storage disease does my child or I have, and what does that mean for the future?,Should I start enzyme replacement therapy, and which type is best for my situation?,How often do I need monitoring tests, and what are we watching for?,Is genetic testing recommended for other family members?,Are there any clinical trials or newer treatments I should consider?,What breathing support might I need now or in the future, and how will we know when it is time?,What physical therapy or exercise program is safe and helpful for me?
Common questions about Lysosomal glycogen storage disease
What is Lysosomal glycogen storage disease?
Lysosomal glycogen storage disease is a rare inherited condition where the body cannot properly break down glycogen — a form of stored sugar — inside tiny cell compartments called lysosomes. Because glycogen builds up in these compartments, it damages cells over time, especially in the muscles, heart, and liver. This disease is also known as Pompe disease (when caused by acid alpha-glucosidase deficiency) or, more broadly, as glycogen storage disease type II. There is also a rarer form called Danon disease, which involves a different lysosomal protein. The buildup of glycogen causes muscles t
How is Lysosomal glycogen storage disease inherited?
Lysosomal glycogen storage disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Lysosomal glycogen storage disease?
15 specialists and care centers treating Lysosomal glycogen storage disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.