Clinical Presentation Of Type 1 Glycogen Storage Disease

Type 1 glycogen storage disease, sometimes referred to as von Gierke disease, is a genetic disorder that affects the metabolism of a complex sugar known as glycogen. Patients with this condition experience a buildup of glycogen in the body that can impair the normal functioning of the liver, kidneys, and small intestines. Scientists have currently identified two types of this disorder: type 1A and type 1B. To diagnose type 1 glycogen storage disease, doctors will perform blood tests to measure glucose levels, lipids, and uric acid, and genetic testing may be performed to check for mutations on several genes.