Glycogen storage disease type 1 (von Gierke disease) is an autosomal recessive disorder that results in glucose-6-phosphatase enzyme deficiency. The main characteristic is a disruptive buildup of glycogen in the liver and kidneys. Patients typically present with signs and symptoms by the age of 6 months. Common findings include hypoglycemia, seizures, hepatomegaly, protruding abdomen, lactic acidosis, hyperuricemia, growth retardation, thin limbs, and hypotonia. In older patients, adenomas may be found in the liver.
The disease is split into two subtypes: glycogen storage disease type 1a and type 1b. Type 1a represents a majority of cases and is caused by mutations on gene G6PC. Type 1b is caused by mutations on gene SLC37A4.
Patients must keep a special diet in order to reach normal glucose levels.