Also known as Von Gierke disease, glycogenosis type 1, glucose-6-phosphate deficiency, hepatorenal glycogenosis, glucose-6-phosphate deficiency glycogen storage disease, glycogen storage disease type 1a (GSDIa)
What is it?
Glycogen storage disease type Ia (GSDIa) is a genetic disorder that results in the buildup of glycogen in the body’s cells and an inability to regulate and maintain normal blood sugar levels. It is the most common type of genetically inherited glycogen storage diseases.
What Causes It?
GSDIa is caused by a defective gene for the enzyme glucose-6-phosphatase, which makes the body unable to convert the complex sugar glycogen (from foods such as carbohydrates) into glucose and regulate blood sugar.
What Are Some Common Symptoms?1, 2
- Poor growth (failure to thrive) and developmental delays in infants
- Hypoglycemia or low blood sugar (which can result in shakiness and lightheadedness)
- Enlarged liver
- Elevated lactate and uric acid levels in the blood and urine
- Seizures
- Kidney failure (if left untreated)
How Many People Have It?
Approximately 6,000 or more patients in the developed world are affected by GSDIa.3
National Organization for Rare Disorders. Glycogen Storage Disease Type I. NORD Website. Published 2019. Accessed October 31, 2021. https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/
Glycogen storage disease type 1A. National Institutes of Health: Genetic and Rare Diseases Information Center Website. https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-type-1a. Updated March 1, 2019. Accessed March 29, 2019.
Ultragenyx Pharmaceutical Inc. Data on file.
Intended for U.S. audiences only
Participate in GSDIa Research
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Clinical Trials
Phase 3 study of investigational gene therapy for GSDIa
Find additional GSDIa trials information
Observational Research
Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community.
Upcoming Community Events
Participate in Events Near YouSep 1
In September, organizations across the country raise awareness about the importance of screening newborns for potential illnesses and genetic disorders. Learn more
Oct 26
The 2022 PCORI Annual Meeting will feature keynotes, plenaries, and breakout sessions that highlight a range of timely and important topics around patient-centered research. Learn more
Dec 3
The United Nations’ day of international observance aims to promote an understanding of disability issues and mobilize support for the dignity, rights, and well-being of persons with disabilities. The term […]
*These organizations are an incomplete listing of rare disease advocacy groups and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].
Rare Experiences
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Jonah
Glycogen Storage Disease Type Ia (GSDIa)“As I got older, I started learning how to listen to my body to know when I needed something.”
