Glycogen Storage Disease Ia
Glycogen storage disease Ia is a metabolic disorder that causes a buildup of sugar called glycogen in the body’s cells.
Symptoms usually develop at three or four months old, and include low blood sugar, a buildup of lactic acid, and excess amounts of fat in the blood. As the individual gets older, they may experience delayed puberty, thinning of the bones, and high blood pressure.
This condition is caused by pathogenic (disease-causing) variants in the G6PC gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 71 chance to be a carrier. Carriers typically do not experience any symptoms.
Other names for this condition include glucose-6-phosphate deficiency, glucose-6-phosphate transport defect, hepatorenal form of glycogen storage disease, hepatorenal glycogenosis, and Von Gierke disease.
Resources:
National Organization for Rare Disorders (NORD)
Revised July 2022
