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
- 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.
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