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. Ultrasound tests will also be conducted to examine the size of the liver and kidneys, and some patients might need to have a liver biopsy. Individuals with this condition are typically diagnosed between four and ten months old. Treatment options emphasize promoting infant growth and correcting the metabolic imbalances associated with the disorder. Parents of children with type 1 glycogen storage disease are encouraged to give their child frequent feedings in small amounts throughout the day. Doctors often advocate adding uncooked cornstarch to soy formula for infants with this disease; the cornstarch provides a slow and steady release of glucose. Some patients with type 1 glycogen storage disease may need to have overnight glucose feedings through a nasogastric tube. Patients might be advised to limit certain sugars in their diets too.