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 disease.

What causes it?

GSDIa is caused by a defect in 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 of the common symptoms?

  • 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
  • Renal failure (if left untreated)

How many people have it?

Approximately 6,000 or more patients in the developed world are affected by GSDIa.

Common names for GSDIa1

  • Von Gierke disease
  • Glycogenosis type 1
  • Glucose-6-phosphatase deficiency
  • Hepatorenal glycogenosis
  • Glucose-6-phosphatase deficiency glycogen storage disease
  • Glycogen Storage Disease Type 1a (GSD1a)
Ultragenyx Opportunities to Participate

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. To learn more about Ultragenyx research, email [email protected].

1Glycogen 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. 2DTX 401 for GSDIa. Ultragenyx Pharmaceutical. https://www.ultragenyx.com/pipeline/dtx-401-for-gsd1a/. Accessed March 28, 2019.3Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa). ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT03517085?term=dtx401&cond=gsd1a&rank=1 Clinicaltrials.gov. Accessed April 15, 2019.

*These organizations are an incomplete listing of rare disease support organizations 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].