Glycogen storage disease type Ⅰ

Glycogen storage disease is a disease caused by the excessive deposition of glycogen in tissues due to hereditary glycogen metabolism disorders. Glycogen storage disease type I is also called Von Geirk disease, glucose-6-phosphatase deficiency. The disease is an autosomal recessive inheritance, which can affect both sexes. Main symptoms include hypoglycemia, liver dysfunction, acidosis, hyperlipidemia, hyperuricemia, hyperlactic acidemia, coagulation dysfunction, and developmental delay. The neurological manifestations of glycogen storage disease type Ⅰ are mainly dyskinesias, stunting, and mental retardation caused by muscle weakness.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.